case study 81 endocrine disorders

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Endocrine Disorders

The endocrine system is a network of glands that produce and release hormones. These hormones help control many important body functions, including the body's ability to change calories into energy that powers cells and organs. The endocrine system affects how your heart beats, how your bones and tissues grow, and even your ability to make a baby.

Disorders of the endocrine system happen if your hormone levels are too high or too low, or if your body doesn't respond to hormones in the expected way. You may develop diabetes, thyroid disease, growth disorders, sexual dysfunction, and a host of other hormone-related disorders.

Glands of the Endocrine System

Each gland of the endocrine system releases specific hormones into your bloodstream. These hormones travel through your blood to other cells and help control or coordinate many body processes.

Endocrine glands include:

• Adrenal glands: Two glands that sit on top of the kidneys that release the hormone cortisol.
• Hypothalamus: A part of the lower middle brain that tells the pituitary gland when to release hormones.
• Islet cells in the pancreas: Cells in the pancreas that control the release of the hormones insulin and glucagon.
• Ovaries: The female reproductive organs that release eggs and produce sex hormones.
• Parathyroid: Four tiny glands in the neck that play a role in bone development.
• Pineal gland : A gland located near the center of the brain that may be linked to sleep patterns.
• Pituitary gland: It's present at the base of the brain behind the sinuses. It is often called the "master gland" because it influences many other glands, especially the thyroid. Problems with the pituitary gland can affect bone growth, a woman's menstrual cycles, and the release of breast milk.
• Testes: The male reproductive glands that produce sperm and sex hormones.
• Thymus: A gland in the upper chest that helps develop the body's immune system early in life.
• Thyroid: A butterfly-shaped gland in the front of the neck that controls metabolism.

Even the slightest hiccup with the function of one or more of these glands can throw off the delicate balance of hormones in your body and lead to an endocrine disorder, or endocrine disease.

Endocrine Disorder Causes

Endocrine disorders are typically grouped into two categories:

• Endocrine diseases that result when a gland produces too much or too little of an endocrine hormone, called a hormone imbalance.
• Endocrine diseases that happen due to the development of lesions (such as nodules or tumors ) in the endocrine system, which may or may not affect hormone levels.

The endocrine feedback system helps control the balance of hormones in the bloodstream. If your body has too much or too little of a certain hormone, the feedback system signals the proper gland or glands to correct the problem. A hormone imbalance may occur if this feedback system has trouble keeping the right level of hormones in the bloodstream, or if your body doesn't clear them out of the bloodstream properly.

Increased or decreased levels of endocrine hormone may be caused by:

• A problem with the endocrine feedback system
• Failure of a gland to stimulate another gland to release hormones (for example, a problem with the hypothalamus can disrupt hormone production in the pituitary gland)
• A genetic disorder, such as multiple endocrine neoplasia (MEN) or congenital hypothyroidism
• Injury to an endocrine gland
• Tumor of an endocrine gland

Most endocrine tumors and nodules (lumps) are noncancerous. They usually don't spread to other parts of the body. However, a tumor or nodule on the gland may interfere with the gland's hormone production.

Symptoms of Endocrine Disorders

The symptoms of an endocrine disorder vary widely and depend on the specific gland involved. However, most people with endocrine disease complain of fatigue and weakness. Certain symptoms may make you think you have a different disease or disorder. Some symptoms that are worth talking to your doctor about include:

• Changes in your heart rate
• Changes to your skin or eyes
• Bone fractures
• High blood sugar levels
• High calcium levels
• Low or high blood pressure
• Unexplained changes in your weight
• Loss of sex drive
• Infertility  
• Menstrual cycle disorders

Types of Endocrine Disorders

There are many different types of endocrine disorders. Diabetes is the most common endocrine disorder diagnosed in the U.S.

Other endocrine disorders include:

Adrenal insufficiency. The adrenal gland releases too little of the hormone cortisol and sometimes, aldosterone. Symptoms include fatigue, stomach upset, dehydration, and skin changes. Addison's disease is a type of adrenal insufficiency.

Cushing's disease. The overproduction of a pituitary gland hormone leads to an overactive adrenal gland. A similar condition called Cushing's syndrome may occur in people, particularly children, who take high doses of corticosteroid medications.

Gigantism (acromegaly) and other growth hormone problems. If the pituitary gland produces too much growth hormone, a child's bones and body parts may grow abnormally fast. If growth hormone levels are too low, a child can stop growing in height.

Hyperthyroidism. The thyroid gland produces too much thyroid hormone, leading to weight loss, fast heart rate, sweating, and nervousness. The most common cause for an overactive thyroid is an autoimmune disorder called Grave's disease.

Hypothyroidism. The thyroid gland does not produce enough thyroid hormone, leading to fatigue, constipation, dry skin, and depression. The underactive gland can cause slowed development in children. Some types of hypothyroidism are present at birth.

Hypopituitarism. In this condition, the pituitary gland releases little or no hormones. It may be caused by several different diseases. Women with this condition may stop getting their periods.

Multiple endocrine neoplasia type 1 and 2 (MEN1 and MEN2). These rare, genetic conditions are passed down through families. They cause tumors of the parathyroid, adrenal, and thyroid glands, leading to overproduction of hormones.

Polycystic ovary syndrome (PCOS). The overproduction of androgens interferes with the development of eggs and their release from the female ovaries. PCOS is a leading cause of infertility.

Precocious puberty. This refers to abnormally early puberty that occurs when glands tell the body to release sex hormones too soon in life.

Testing for Endocrine Disorders

If you have an endocrine disorder, your doctor may refer you to a specialist called an endocrinologist. An endocrinologist is specially trained in problems with the endocrine system.

Blood and urine tests to check your hormone levels can help your doctors determine if you have an endocrine disorder. Imaging tests may be done to help locate or pinpoint a nodule or tumor.

Treatment of endocrine disorders can be complicated, as a change in one hormone level can throw off another. Your doctor or specialist may order routine blood work to check for problems or to determine if your medication or treatment plan needs to be adjusted.

Your endocrine system releases hormones that affect how your body develops and functions. An endocrine system malfunction, caused by genetics, infection, or other factors, can result in various disorders such as diabetes, hyperthyroidism, and polycystic ovarian syndrome (PCOS). If you have fatigue or weakness regularly, it could be a sign of an endocrine disorder, so consult your doctor so that they can diagnose and treat your condition.

Endocrine Disorder FAQs

What are the four major endocrine conditions?

There aren't just four endocrine disorders. Some of the most common are:

• Adrenal insufficiency
• Hyperthyroidism and Hypothyroidism
• Cushing's disease
• Gigantism (acromegaly) and other growth hormone problems.
• Hypopituitarism
• Multiple endocrine neoplasia type 1 and 2 (MEN1 and MEN2)
• Polycystic ovary syndrome (PCOS)
• Precocious puberty

What is the most common endocrine disorder?

In the U.S., diabetes is the most common endocrine disorder.

What are the symptoms of endocrine system disorders?

Endocrine disorders have various symptoms, but the most common are fatigue and weakness. Other symptoms include:

• Infertility

What are the disorders caused by hormonal imbalance?

A hormonal imbalance (too much or too little of a hormone) can result in different types of endocrine disorders. Some examples include:

• Adrenal insufficiency , where the adrenal gland releases too little of the hormone cortisol and sometimes, aldosterone. Symptoms include fatigue, stomach upset, dehydration, and skin changes. Addison's disease is a type of adrenal insufficiency.
• Hyperthyroidism , where the thyroid gland produces too much thyroid hormone, which leads to weight loss, a fast heart rate, sweating, and nervousness. The most common cause for an overactive thyroid is an autoimmune disorder called Grave's disease .
• Polycystic ovary syndrome (PCOS) , where an overproduction of androgens interferes with the development of eggs and their release from the female ovaries. PCOS is a leading cause of infertility.

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A Case-Based Guide to Clinical Endocrinology

• © 2022
• Latest edition
• Terry F. Davies 0

Thyroid Research Unit, Department of Medicine, Icahn School of Medicine at Mount Sinai and James J. Peters VA Medical Center, New York, USA

You can also search for this editor in PubMed   Google Scholar

• Utilizes detailed clinical cases of common endocrine disorders, with a focus on the APDEM curriculum
• Discusses all aspects of endocrine care, with new sections on PCOS, transgender and viral infections
• An invaluable resource for clinical endocrinologists at all levels of care and experience

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Endocrinology

Pseudo-Endocrine Disorders: Definitions, Examples, and Considerations

Endocrinology research—reflecting on the past decade and looking to the next

• Congenital hypogonadotropic hypogonadism
• Cushing's disease
• Exogenous thyrotoxicosis
• Gestational diabetes
• Hypercholesterolemia
• Hyperparathyroidism
• Hypothyroidism
• Klinefelter syndrome
• Osteomalacia
• Osteoporosis
• Pheochromocytoma
• Polycystic ovary syndrome
• Primary aldosteronism
• Struma ovarii
• Thyroid cancer
• Transgender
• Type 1 diabetes
• Type 2 diabetes

Table of contents (62 chapters)

Front matter, pituitary disorders, preface: pituitary tumors are more frequent than previously thought.

• Maria Fleseriu

Pituitary Tumor Behavior and Disease Severity in Patients with Acromegaly

• José Miguel Hinojosa-Amaya, Daniel Cuevas-Ramos

Abrupt Weight Gain, Hypertension, and Severe Hypokalemia in a Young Male

• Stuti Fernandes, Elena V. Varlamov, Maria Fleseriu

Dopamine Agonist-Induced Impulse Control Disorders

• Cristina Capatina, Catalina Poiana, Maria Fleseriu

Thyroid Overactivity

Introduction to thyroid overactivity.

Terry F. Davies

Immunoglobulin G4 and Graves’ Orbitopathy

• Katharina A. Ponto, George J. Kahaly

Subclinical Hyperthyroidism: Case Report and Review of the Literature

• Karen Tsai, Angela M. Leung

A Case of Gestational Thyrotoxicosis

Thyroid underactivity, introduction.

• Giuseppe Barbesino

Managing Hypothyroidism: Increasing Levothyroxine Requirements

• Josephine H. Li

Gastrointestinal Disease and Levothyroxine Absorption

• Maria Gabriela Negron Marte, Francesco S. Celi

Drug-Induced Central Hypothyroidism

• Benjamin Gigliotti

Thyroid Cancer

• Kenneth D. Burman

Papillary Thyroid Cancer

• Banafsheh Motazedi, Kenneth D. Burman

Anaplastic Thyroid Carcinoma

• Ayesha Munir, Irina G. Veytsman

Editors and Affiliations

About the editor, bibliographic information.

Book Title : A Case-Based Guide to Clinical Endocrinology

Editors : Terry F. Davies

DOI : https://doi.org/10.1007/978-3-030-84367-0

Publisher : Springer Cham

eBook Packages : Medicine , Medicine (R0)

Copyright Information : The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022

Hardcover ISBN : 978-3-030-84366-3 Published: 05 January 2022

Softcover ISBN : 978-3-030-84369-4 Published: 06 January 2023

eBook ISBN : 978-3-030-84367-0 Published: 04 January 2022

Edition Number : 3

Number of Pages : XVIII, 560

Number of Illustrations : 6 b/w illustrations, 37 illustrations in colour

Topics : Endocrinology , General Practice / Family Medicine

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Trend of nutrition research in endocrine disorders, gaps, and future plans: a collection of experiences of an endocrinology research institute

Nazli namazi.

1 Diabetes Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Rasha Atlasi

2 Evidence Based Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Azadeh Aletaha

Mojgan asadi.

3 Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Bagher Larijani

Nutrition plays a pivotal role in the prevention and treatment of endocrine disorders. The aim of this study was to provide a window in order to display the 25-year activities of Endocrinology & Metabolism Research Institute (EMRI), and the gaps and future plans in the field of nutrition and endocrine disorders.

To collect papers affiliated to the EMRI in field of nutrition from the inception to December 1st 2019, the electronic databases including PubMed/Medline, Web of Science, and Scopus were searched. Publications in English and Persian languages were included. Scientific Landscapes (VOS viewer) software version 1.6.13 was used to provide bibliometric maps.

Of 4082 studies identified in the initial search, 319 relevant papers were included. They contributed systematic review and meta-analysis/review ( n  = 76), clinical trials ( n  = 58), cross-sectional ( n  = 171), case-control studies ( n  = 11), and animal studies ( n  = 3). Accordingly, most nutrition studies were dedicated to the level of evidence III (cross-sectional studies: 53.60%) followed by systematic review studies (23.82%) with the level of evidence I. There was also an increasing trend in the nutrition studies through years, with a peak in 2019.

An increasing trend in the publications related to nutrition science is observed at EMRI. However, nutrition research and publications can grow further through expanding collaborations with other fields related to endocrine. Given nutritional assessments in national projects and focusing on the identification of preventive nutritional strategies, considering the situations of our society can be helpful to make nutritional findings more practical.

Introduction

Based on the report published by the World Health Organization (WHO), non-communicable diseases (NCDs) represent the leading cause of mortality across the world [ 1 ]. In the past 20 years, NCD deaths including cardiovascular diseases, diabetes, and obesity have increased by 14.5% in Iran [ 2 ]. Therefore, policy makers need to pay specific attention to identifying preventive strategies in order to reduce economic, social, and psychological burden of such diseases [ 2 , 3 ]. Prevention efforts focus on the four main factors including physical activity, tobacco use, alcohol consumption, and diet [ 4 ]. Adherence to healthy dietary patterns and changing from unhealthy eating habits to recommended ones can be helpful in preventing and treating a wide range of diseases including endocrine disorders [ 5 ].

Evidence suggests that healthy dietary patterns including Mediterranean diet and Dietary Approaches to Stop Hypertension (DASH) can decrease the risk of various NCDs [ 6 – 12 ]. Healthy diets can also reduce all-cause mortality and mortality attributed to cancer and cardiovascular diseases (CVD) [ 6 , 13 , 14 ].

To find preventive strategies to manage endocrine -related diseases, the research centers and groups affiliated to Endocrinology & Metabolism Research Institute (EMRI) consider nutrition assessments in their research activities. Furthermore, in both professional and public educational programs, nutrition recommendations and their associations with endocrine disorders are considered as well. Although there is no specific nutrition research center at EMRI, accumulating research has been published by researchers affiliated to this institute, particularly in the recent years.

In the present report, we aimed to summarize the 25-year activities of EMRI by focusing on the trend, types of publications, and their remarkable findings in the field of nutrition. Secondary aims were to shed light on nutrition research gaps and suggest a road for the future research, accordingly.

To find papers affiliated to the EMRI from the inception to 1 December 2019, PubMed/Medline, Web of Science, and Scopus, the electronic databases were searched. In the present study, we included papers in English or Persian language in the field of nutrition that at least the affiliation of one author was EMRI. Grey literatures including conference papers, theses, letter to editors, and interviews were not included.

All findings were exported to the Endnote library. After removing the duplicates, screening was conducted based on the titles and abstracts to collect all the publications in the field of nutrition. As in this specific issue of journal, there are specific reports on CASPIAN studies, probiotic, Islamic fasting, and osteoporosis, in this study; we did not consider the aforementioned topics to avoid repetition.

Eligible articles were classified based on the type of studies (systematic review, clinical trials, cross-section, case-control, and animal studies). Moreover, the level of evidence for the included studies was determined based on the evidence-based medicine pyramid. In order to clarify the main topics of the nutrition publications, papers were also allocated to either dietary pattern or dietary supplement categories in case of relevancy.

The frequency of publications in each category was expressed as number and/or percent. The trend of publications through years was illustrated as a graph. To provide bibliometric maps, Scientific Landscapes (VOS viewer) software version 1.6.13 was used.

Literature search

In total, 8049 papers (duplicate, n  = 3951) were identified from PubMed, Scopus, and Web of Science. Initial screening based on titles and abstracts was conducted and 503 nutritional were considered possibly relevant. As publications studies conducted on probiotic, osteoporosis, and Islamic fasting will be explained in other reports, they were excluded from the study to avoid repetition. In the next step, selected papers were checked for affiliations and papers with irrelevant affiliations ( n  = 184) were excluded from the study. Finally, we reached 319 papers in the field of nutrition published by researchers affiliated to EMRI.

Main characteristics of the included studies

The included papers were classified based on the type of studies. They were systematic review and meta-analysis/review ( n  = 76), clinical trials ( n  = 58), cross-sectional ( n  = 171), case-control ( n  = 11), and animal studies ( n  = 3). Most studies were dedicated to secondary research. From the view of evidence-based pyramid, 23.82% of nutritional studies were placed at the top of the pyramid with the level of evidence I. The most studies had the level of evidence III (53.60%).

Figure ​ Figure1 1 shows the trend of studies conducted in the field of nutrition through years. The first papers with the scope of nutrition were published in 2004. Generally, there was an increasing trend from 2004 to 2019. As shown in Fig.  1 , there was a fluctuation in the number of papers between 2004 and 2013. However, after 2013, an increasing trend was observed. Between 2018 and 2019, the number of papers was sharply increased. The most publications were published in the recent 3 years, particularly 2019 ( n  = 100) (Fig. ​ (Fig.1). 1 ). As shown in Fig.  2 , most papers were conducted on obesity and metabolic syndrome. Other frequently used keywords in the title of papers were inflammation, oxidative stress, meta-analysis, health, insulin resistance, overweight, and prevalence. Outstanding authors with high publications in the field of nutrition were Prof. Bagher Larijani, Dr. Ahmad Esmaeilzadeh, and Dr. Leila Azadbakht (Fig.  3 ). As shown in Fig. ​ Fig.3, 3 , the mentioned professors apart from joint papers with each other, have several national and international networks in their publications. In 2019, 32 nutrition papers were dedicated directly to endocrine disorders.

Trend of publications in the field of nutrition at EMRI

Topics of publications in the field of nutrition at EMRI

Outstanding authors in nutrition publications at EMRI

Findings of systematic reviews and meta-analyses

Based on evidence-based medicine pyramid, the level evidence of systematic review and meta-analysis is “I” and, we only briefly focused on only some results of this type of study.

Systematic review and meta-analysis can be classified into dietary supplements [ 15 – 19 ] and food groups/dietary patterns [ 20 – 27 ]. For instance, cinnamon may be helpful in reducing the serum levels of glucose with no changes in other glycemic parameters and anthropometric indices in patients with diabetes. It can also reduce both systolic and diastolic blood pressures [ 28 ]. In addition, its positive effects on obesity measures have been revealed [ 29 ]. Namazi et al. also concluded that conjugated linoleic acid had positive effects on anthropometric indices and body composition. However, from the clinical points of view, its effects were slight [ 15 ]. Regarding supplementation with calcium, it has been shown that it is not effective inreducing serum levels of total cholesterol and triglyceride in overweight and obese individuals. However, it may modulate low-density lipoprotein and high-density lipoprotein cholesterol concentrations [ 30 ]. In addition, the consumption of whole-grains did not show any effect anthropometric indices and body composition [ 20 ].

Findings of national nutritional research

Numerous national studies and international studies [ 2 , 31 – 47 ] with collaboration of European and American countries have been published so far. In this study, we pointed out only some of them as examples.

Rezaei et al., conducted a national study on 18,624 adults and found that the mean salt intake among Iranian population was 9.52 g/day. In 97.6% of participants, minimum level of salt consumption was 5 g/day. Besides, in about 41% of participants, the level of salt intake was at least twice greater than that recommended by the World Health Organization [ 44 ]. Gholami et al. (2016) performed STEPS survey in Iran, and demonstrated that salt intake could increase systolic blood pressure in both Iranian subjects with hypertension and normotensive individuals. However, the magnitude of this increase was greater in hypertensive ones [ 39 ].

Obesity is a growing metabolic disorder which has been examined from various aspects. For instance, Djalalinia et al. (2011) found that excess BMI was responsible for 39.5% of total deaths in subjects (%55 male, 45% female) aged 25 to 65 years old at national level. The highest mortality was attributed to ischemic heart diseases (55.7%) followed by stroke (19.3%) and diabetes mellitus (12.0%) [ 35 ]. Apart from original papers, several systematic reviews and meta-analyses on Iranian studies have been conducted. Based on a systematic review and meta-analysis on 119 studies in Iran, it was revealed that increased age, being married, low level of education, residence in urban regions as well as being female were positively associated with obesity [ 36 ].

Other activities

Apart from papers and conference abstracts, some specific activities in the field of nutrition particularly in diabetic research center affiliated to EMRI have been conducted. In the clinical guideline for diabetes published in 2014, a section was dedicated to this field that it was updated in 2018 considering main international guidelines in diabetes as well as national research. The level of evidence has been dedicated to each recommendation in order to help clinicians for making decision. In addition, the road map of diabetes including nutritional section has been provided in 2015 [ 48 , 49 ] and in 2019 an update based on new evidence has been started.

Furthermore, in several symposiums and conferences held by EMRI including diabetes, osteoporosis, and probiotics, some panels have been dedicated to nutrition. Apart from workshops for physicians and other clinicians, 7 visual educational programs in the field of nutrition and diabetes also have been prepared by cooperation with the visual faculty of Tehran University of Medical sciences, so far. Moreover, numerous booklets and pamphlets in various endocrine disorders, particularly different types of diabetes mellitus, osteoporosis, and elderly disorders have been published and they were updated after a certain period of time to provide recommendations based on new evidence. Several clinics affiliated to EMRI provide nutrition consult and diet therapy for patients. Apart from providing nutrition services for people, they can be suitable ground for doing research in various fields.

Activities in the COVID-19 pandemic

For adapting to the COVID-19 pandemic, public education in the field of nutrition has been shifted to virtual forms. Animations, motion graphics, E- books, and short films are examples of educational materials that spread through social networks and media by EMRI amid COVID-19. In addition, a guideline on diabetes management in the COVID-19 pandemic is prepared that a specific section has been considered for nutritional recommendations in this challenging time.

Trends of publications in the field of nutrition showed a considerable increase in the recent years at EMRI. Due to the topics of publications, it can be reported that most research centers and groups have considered nutrition assessments in their projects. However, as there is no nutrition research center at EMRI, nutrition roadmap is not completely clear. However, since 2019 a specific group started to develop a roadmap in this field.

Many research projects affiliated to EMRI did not consider nutrition assessments as their main aims; therefore sometimes tools and questionnaires dedicated to this part of projects were not ideal and did not cover the main dimensions of nutrition assessments. Several national research projects have been designed and run by EMRI in collaborations with other institutes including STEPS [ 50 ], IMOS [ 51 ], Heavy Metal (unpublished protocol), BEHVARZ [ 52 ], CASPIAN [ 53 ], and Bushehr elderly health program [ 54 ] in which nutritional assessments has been considered and some topics on nutritional factors extracted from the aforementioned studies have been published [ 55 – 59 ], but nutrition assessments were only their secondary outcomes. It is suggested that considering specific nutrition aims in such national surveys to draw nutrition status of our society for different age groups and genders, to clarify nutrient deficiencies and other requirements. Based on these findings we can help to policy makers and health providers to develop and implement effective strategies to overcome nutritional problems.

Although the different levels of nutrition research, including international, national, and small studies with various study designs have been conducted at EMRI, more high-quality studies are needed to find nutritional requirements and suggest appropriate strategies to prevent and manage endocrine disorders and other NCDs. On the other hand, it seems that paying more attention to basic studies in the field of nutrition can be helpful in developing the effective therapeutic and preventive methods based on nutrition knowledge. It seems that developing studies with several phases from In vitro to clinical trial phase for developing novel dietary supplements and clarification of pathways can be helpful in increasing the numbers of product-based projects.

Based on the publications and activities in the field of nutrition through 25 years, main research gaps in this field related to endocrine disorders are as follows:

• (i) No specific strategic plan and action plan in the field of nutrition
• (ii) Less attention to basic studies such as animal studies and In vitro studies.
• (iii) Undefined priorities in nutrition research
• (iv) Less specific attention to nutrition status of study populations and conducting specialized nutrition assessments in national studies conducted by EMRI
• (v) Few product-based projects

Given the publications in the field of nutrition, more clinical trials with nutrition topics including different types of diet and dietary supplements were expected. Annual strategic plan and action plan based on the requirements of society, literatures, and the opinion of experts in nutrition sciences can improve the current status.

Developing multidisciplinary mega projects with practical aims and expanding national and international networks can be considered as a future plan for this research group.Along with increasing the numbers of nutrition projects with high- quality methodology, paying attention to hot topics and checking the topics of nutrition research in valid international universities and centers periodically can improve our position in the world. Other proposed future plans in the field of nutrition and endocrine disorders are as follows:

• (i) Providing a strategic plan by a professional team in the field of nutrition sciences
• (ii) Identifying research gaps in the field of nutrition for each research center particularly for diabetes and obesity research centers to define research priorities
• (iii) Focusing on finding preventive strategies for endocrine diseases (national projects considering a collection of nutritional assessments can be helpful)
• (iv) Expanding collaborations with experts in the field of basic sciences
• (v) Increasing interdisciplinary projects

There were two major limitations in this study that should be addressed. First, the quality of studies was not examined. Second, grey literature such as theses, books, and conference abstracts in the field of nutrition were not considered. The main strengths of this study were as follows: summarizing publications through 25 years in this field, clarifications of research gaps, and putting forward suggestions as future plans.

An increasing trend in the publications related to nutrition research is observed. However, nutrition activities and publications can grow further through expanding collaborations with other fields related to endocrine. Considering nutritional assessments in national projects and focusing on the identification of preventive nutritional strategies specific to our society can shed light on how to prevent NCDs and decrease the burden of such diseases.

Compliance with ethical standards

All authors declared no conflict of interest.

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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A patient with a large recurrent pheochromocytoma demonstrating the pitfalls of diagnosis

This Case Study illustrates some of the potential pitfalls of diagnosis and demonstrates a combination of problems of follow-up biochemical screening in a patient operated for a large pheochromocytoma at increased risk of malignant disease. The difficulty in assessing the presence of disease after initial surgical resection and reaching a diagnosis of malignancy are highlighted.

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Lymphocytic hypophysitis with diabetes insipidus in a young man

Lymphocytic hypophysitis—an inflammatory condition of presumed autoimmune etiology—is characterized by an enlargement of the pituitary gland, resulting in its dysfunction. Although found generally in peripartum women, this Case Study of a 29-year-old man, who was referred to a neurosurgical clinic for evaluation of a suprasellar mass and diabetes insipidus, illustrates the need to consider this disorder in men.

• Ole-Petter R. Hamnvik
• Anna R. Laury
• Ursula B. Kaiser

Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age

The authors of this Case Study demonstrate the substantial impact of molecular genetic testing in the improvement of diagnostics and patient treatment on the basis of the case of a 17-year-old patient who was diagnosed as having type 1 diabetes mellitus in early infancy, but after reassessment was found to have neonatal diabetes mellitus owing to a Kir6.2 mutation.

• Angus G. Jones
• Andrew T. Hattersley

Treatment of postmenopausal osteoporosis in a patient with celiac disease

This Case Study describes a patient diagnosed as having celiac disease as a result of examinations for secondary causes of bone loss. As osteoporosis in patients with celiac disease might result from a reduction of nutrient absorption in the small bowel, leading to calcium and/or vitamin D deficiency, the investigators highlight the need to evaluate secondary causes of osteoporosis in patients with persistent decline in BMD, particularly in postmenopausal women after treatment with hormone replacement therapy.

• JoAnn V. Pinkerton
• Alan C. Dalkin
• Edward B. Stelow

Paraganglioma syndrome type 1 in a patient with Carney–Stratakis syndrome

A thorough understanding of the diagnosis and treatment of familial paraganglioma syndromes is required for optimal therapy and management of patients with mutations of the succinate dehydrogenase complex. In this Case Study, Ayala-Ramirez and colleagues discuss current techniques for the localization of pheochromocytomas, paragangliomas and gastrointestinal stromal tumors and address the controversies of surgical removal of bilateral pheochromocytomas caused by a hereditary syndrome in a patient with Carney-Stratakis syndrome and paraganglioma syndrome type 1.

• Montserrat Ayala-Ramirez
• Glenda G. Callender
• Camilo Jimenez

Harvey Cushing's attempt at the first human pituitary transplantation

Advances in organ and tissue transplantation continue to improve the care of patients with multiple diseases. The authors present the case of a patient with hypopituitarism secondary to a suprasellar mass, in whom the first documented pituitary gland transplantation was performed. This case study illustrates Harvey Cushing's pioneering work in pituitary transplantation in the early 20th century and the essential relationship between laboratory research and clinical practice.

• Courtney Pendleton
• Hasan A. Zaidi
• Alfredo Quiñones-Hinojosa

Diagnosis of insulinoma in a patient with hypoglycemia without obvious hyperinsulinemia

Initial diagnosis of insulinoma requires demonstration of inappropriately elevated insulin levels and concurrent hypoglycemia in the absence of administration of exogenous insulin or sulphonylureas. This article presents the case of a patient with insulinoma, who presented with hypoglycemia without coinciding evident hyperinsulinemia according to current guidelines. The article details current diagnostic criteria and highlights the role of clinical judgment in the investigation and management of cases, which do not conform to an expected pattern.

• Catarina Coelho
• Maralyn R. Druce
• Ashley B. Grossman

A case of diabetic Charcot arthropathy of the foot and ankle

Charcot arthropathy of the neuropathic foot and ankle is characterized by bone and joint destruction and deformities that may lead to ulcer, soft tissue infection, osteomyelitis and amputation. This article reviews the evaluation and treatment of this condition, highlighted by a clinical case of a man with type 2 diabetes mellitus who had Charcot collapse of the longitudinal arch, rocker bottom deformity and plantar ulcer.

• John M. Embil
• Elly Trepman

A woman with polycystic ovary syndrome treated for infertility by in vitro fertilization

This case illustrates some of the difficulties in treating anovulatory women with polycystic ovary syndrome, which is the most common cause of anovulatory infertility. Insulin resistance is a contributing factor to the pathogenesis of the syndrome. Assisted conception therapy is an effective treatment for women with polycystic ovary syndrome who are refractory to standard ovulation induction therapies or who have co-existing infertility factors. However, women with polycystic ovaries are particularly sensitive to stimulation with gonadotropins and have an increased risk of developing ovarian hyperstimulation syndrome.

• Thomas Tang
• Adam H. Balen

Pseudohypoparathyroidism type 1a and insulin resistance in a child

This article presents the case of a child with pseudohypoparathyroidism type 1a and associated endocrinopathies, namely, growth hormone deficiency, hypothyroidism, parathyroid hormone resistance and insulin resistance. The article details the natural history and management of these endocrinopathies, including the controversy over growth-hormone therapy, and potential mechanisms for insulin resistance in pseudohypoparathyroidism type 1a.

• Benjamin U. Nwosu
• Mary M. Lee

A case of severe, refractory diabetic gastroparesis managed by prolonged use of aprepitant

Gastroparesis is a complication of diabetes mellitus that is associated with prolonged periods of suboptimal glycemic control. This article describes a patient who had diabetic gastroparesis that was unresponsive to conventional treatments. Her severe vomiting was successfully controlled by use of the antiemetic drug aprepitant for 4 months before a gastric electrical stimulation device was fitted.

• Kiang Chong
• Ketan Dhatariya

Evaluation of a child for secondary causes of obesity and comorbidities

Childhood obesity is a serious public health concern. This Case Study discusses the evaluation and treatment of a child with obesity. The article details how careful assessment can exclude genetic causes of obesity in most children and outlines how children without genetic causes of the condition can benefit from individualized lifestyle modification programs.

• Robert E. Kramer
• Stephen R. Daniels

Generalized arterial calcification of infancy: treatment with bisphosphonates

Generalized arterial calcification of infancy is a rare and often fatal genetic disorder, for which no formalized treatment approach exists. This article describes a case where treatment with nitrogen-containing bisphosphonates resulted in normalization of the arterial structure.

• Kim A Ramjan
• Tony Roscioli
• Craig FJ Munns

Cyclic Cushing syndrome due to an ectopic pituitary adenoma

Cyclic Cushing syndrome is a rare disorder characterized by periodic fluctuations in adrenal cortisol secretion, with phases of hypercortisolism alternating with periods of normal or low cortisol production. This Case Study discusses diagnostic challenges and treatment options in a patient with cyclic Cushing syndrome due to an ectopic pituitary adenoma.

• Rahfa K Zerikly
• Amir H Hamrahian

A patient with stress-related onset and exacerbations of Graves disease

Emotional stress might affect thyroid function by causing immunological perturbations and also via neural pathways. This article demonstrates a case in which both the onset of Graves disease and later exacerbations of hyperthyroidism were triggered by stressful events, and discusses management strategies for patients with stress-related Graves disease.

• Roberto Vita
• Daniela Lapa
• Salvatore Benvenga

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Endocrinology Case Studies

Endocrinology is the branch of medicine dealing with the conditions of endocrine glands and their secreted hormones. There are several endocrine glands in the human body namely, the Pituitary, Hypothalamus, Thyroid, Parathyroid, Thymus, Pancreas, Adrenal glands, Testis, and Ovary.

Common endocrine diseases

• Diabetes type 1 & 2
• Hyperthyroidism and Hypothyroidism
• Addison’s disease
• Cushing syndrome
• Osteoporosis
• Hypopituitarism and Hyperpituiterism .
• Acromegaly etc.

Common signs and symptoms

• Unexplained weight loss or gain
• Infertility
• Nausea & vomiting
• Diarrhea or constipation
• High or low blood pressure
• High or low blood sugar
• Heat or cold intolerance
• Menstrual abnormality etc.

Common investigations

• Serum hormone levels
• Ultrasonogram
• Positron emission tomography or PET scan
• Scintigraphy

Creative Commons License

This post is adapted for the Health & Medical Case Studies created by the Master of Medical Biotechnology program of the University of Windsor. This work licensed under a Creative Commons Attribution-NonCommercial (CC BY-NC-ND) 4.0 International License .

An overactive thyroid, occurring when the thyroid gland produces an excess amount of hormone thyroxine.

Hypothyroidism is a common condition where the thyroid doesn't create and release enough thyroid hormone into your bloodstream.

Osteoporosis is a disease that weakens bones to the point where they break easily—most often, bones in the hip, backbone (spine), and wrist.

Obesity is a complex disease involving an excessive amount of body fat.

Pituitary gland fails to produce one or more hormones, or doesn't produce enough hormones.

High activity in pituitary or create/release more pituitary hormones than normal.

Positron emission tomography (PET is a functional imaging technique that uses radioactive substances known as radiotracers to visualize and measure changes in metabolic processes, and in other physiological activities including blood flow, regional chemical composition, and absorption.

Scintigraphy (from Latin scintilla, "spark"), also known as a gamma scan, is a diagnostic test in nuclear medicine, where radioisotopes attached to drugs that travel to a specific organ or tissue (radiopharmaceuticals) are taken internally and the emitted gamma radiation is captured by external detectors (gamma cameras) to form two-dimensional images in a similar process to the capture of x-ray images.

Fine-needle aspiration cytology

HEALTH & MEDICAL CASE STUDIES (V1.01) Copyright © by Dr. Tranum Kaur is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License , except where otherwise noted.

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