Browse Hypothalamic-Pituitary Disease
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Original Article
A 12-Month Phase 3 Study of Pasireotide in Cushing's Disease
Cushing's disease is a rare disorder of chronic hypercortisolism due to a corticotropin-secreting pituitary adenoma. The disorder is associated with central obesity, osteoporosis, arterial hypertension, insulin resistance, glucose intolerance, diabetes mellitus, dyslipidemia, cardiovascular disease,…
Case Records of the Massachusetts General Hospital
Case 40-2011 — A 52-Year-Old Man with Weakness, Infections, and Enlarged Adrenal Glands
Presentation of Case. Dr. Liana K. Billings (Medicine): A 52-year-old man was admitted to this hospital because of weakness and swelling in his legs. The patient had been in his usual health until 9 months earlier, when leg edema and weakness developed, associated with weight gain. His physician…
- CME
Original Article
A Genetic Basis for Functional Hypothalamic Amenorrhea
Reproduction is an energetically costly process for women, and defense mechanisms have evolved that temporarily inhibit reproduction under adverse conditions. Stressors such as weight loss, excessive exercise, eating disorders, and psychological distress suppress the…
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The authors hypothesized that mutations in genes involved in idiopathic hypogonadotropic hypogonadism would be associated with functional hypothalamic amenorrhea, a reversible disorder commonly triggered by stress. Variants in such genes were detected in patients with hypothalamic amenorrhea.
Original Article
Brief Report: AIP Mutation in Pituitary Adenomas in the 18th Century and Today
Pituitary adenomas are usually benign, slow-growing tumors that cause symptoms due to excess hormone release, local space-occupying effects, or both. Adenomas that secrete excess growth hormone cause acromegaly. Patients with acromegaly have numerous symptoms and signs, such as hyperhidrosis,…
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Gigantism results from the presence of a growth hormone–secreting pituitary adenoma before epiphyseal fusion. The authors identified a mutation in a gene extracted from the teeth of an 18th-century giant and from contemporary Northern Irish families with gigantism, acromegaly, or prolactinomas.
Clinical Practice
Functional Hypothalamic Amenorrhea
Foreword. This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the author's clinical recommendations. Stage. A 16-year-old…
- CME
- Full Text Audio
A 16-year-old girl presents for evaluation of secondary amenorrhea. Her menarche was at the age of 12 years. Her last menstrual period was 6 months ago. She has lost 2.3 kg (5 lb) over the past 3 months and reports a 2-week history of unilateral foot pain. She typically runs 10 km (6 mi) per day, at least five times per week. Her body-mass index is 19. How should her case be evaluated and managed?
Case Records of the Massachusetts General Hospital
Case 20-2010 — A 32-Year-Old Woman with Oligomenorrhea and Infertility
Presentation of Case. Dr. Elizabeth Guancial (Medicine): A 32-year-old woman was evaluated because of oligomenorrhea and difficulty becoming pregnant. Menarche had occurred at 12 years of age and menses were regular until the patient began taking oral contraceptives at 20 years of age. At 25 years…
A 32-year-old woman was evaluated because of oligomenorrhea and difficulty becoming pregnant. At 25 years of age, after 5 years of oral contraceptive use, irregular menstrual cycles developed, and she was unable to become pregnant. She reported acne and increased facial hair; results of laboratory tests were consistent with anovulation. She became pregnant after two cycles of clomiphene, gestational diabetes developed, she delivered a healthy infant, and she breast-fed normally. Glucose intolerance and amenorrhea persisted after delivery. A diagnostic test was performed.
Correspondence
Pasireotide Alone or with Cabergoline and Ketoconazole in Cushing's Disease
To the Editor: Cushing's disease, which is caused by an adrenocorticotropin-secreting pituitary adenoma, is associated with increased morbidity and mortality. Currently, there is no effective medical therapy for Cushing's disease. However, recent studies identified the somatostatin-receptor subtype…
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Clinical Practice
Prolactinomas
Foreword. This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they exist. The article ends with the author's clinical recommendations. Stage. A 42-year-old…
- Full Text Audio
A 42-year-old man presents with decreased libido, erectile dysfunction, and headaches. He reports no weight change, gynecomastia, fatigue, or other symptoms. He takes no medications. Testicular size is decreased. His prolactin level is 648 μg per liter (normal value, <15). Magnetic resonance imaging reveals a sellar mass (2.5 by 1.5 by 2.0 cm) that is 5 mm below the optic chiasm and that extends bilaterally into the cavernous sinuses. What are the diagnostic and therapeutic considerations?
Perspective
Focus on Research: The Power of the Extreme in Elucidating Obesity
Despite the worrisome statistics that 16% of children in the United States are obese and that the number of adults with a body-mass index (the weight in kilograms divided by the square of the height in meters) of 50 or more has increased by a factor of 6 in the past 10 years, no simple…
Correspondence
Autoimmune Pancreatitis
To the Editor: Finkelberg et al. (Dec. 21 issue) review the pathogenesis, diagnosis, and management of autoimmune pancreatitis. We treated a 67-year-old man with a diagnosis of autoimmune pancreatitis made on the basis of computed tomography (CT), endoscopic ultrasonography and biopsy, and elevated…
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Original Article
Recombinant Human Leptin in Women with Hypothalamic Amenorrhea
Hypothalamic amenorrhea, either organic or functional, is characterized by the absence of menstrual cycles, low estrogen levels, and low or normal levels of gonadotropins. It accounts for over 30 percent of cases of amenorrhea in women of reproductive age and may lead to infertility and bone loss.…
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Hypothalamic amenorrhea may be accompanied by low leptin levels. These investigators administered recombinant human leptin to eight women with hypothalamic amenorrhea. Six additional untreated subjects served as historical controls. Treatment with recombinant leptin increased mean luteinizing hormone levels and pulse frequency, improved ovarian variables, and resulted in ovulation in three women and in withdrawal bleeding in two.
Correspondence
Selective Estrogen-Receptor Modulators
To the Editor: The review article by Riggs and Hartmann on selective estrogen-receptor modulators (SERMs) (Feb. 13 issue) does not discuss a SERM approved by the Food and Drug Administration for the treatment of ovulatory dysfunction. Clomiphene citrate has been used extensively for decades. It…
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Editorial
Defective Melanocortin 4 Receptors in Hyperphagia and Morbid Obesity
There has been a dramatic increase in the worldwide prevalence of obesity, a disorder with complex genetic traits that is influenced by environmental factors and that predisposes affected persons to diseases such as diabetes mellitus, hypertension, stroke, and heart attack. Since it has arisen with…
Case Records of the Massachusetts General Hospital
Case 35-2001 — An 81-Year-Old Man with Hypothermia, Bradycardia, and Confusion
Presentation of Case. An 81-year-old man was transferred to the hospital because of bradycardia, hypothermia, and increasing confusion. A platelet count of 85,000 per cubic millimeter had been discovered five years before admission, but no cause had been determined. The patient also had a history…
Correspondence
Stereotactic Stimulation of Posterior Hypothalamic Gray Matter in a Patient with Intractable Cluster Headache
To the Editor: Cluster headache is the most severe form of primary headache. Positron-emission tomography has shown activation of the homolateral posterior inferior hypothalamic gray matter during attacks of cluster headaches, a finding that is apparently specific to the condition,, and voxel-based…
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Case Records of the Massachusetts General Hospital
Case 34-2000 — A 71-Year-Old Woman with an Enlarging Pituitary Mass
Presentation of Case. A 71-year-old woman was admitted to the hospital because of a pituitary mass. During the five years before admission, the patient had been tired and anorectic, her joints had ached, and her neck and shoulders had become stiff. A diagnosis of polymyalgia rheumatica had been…
