CASE 3 Cushings Syndrome In A Child Case Description

The patient is an 11-yr-old female who has not grown in the past 18 mo despite an approximately 20-lb weight gain (see Fig. 4) associated with increasing facial rounding and plethora. She is prepubertal. There has been some evidence of breast development. She has noticed some increasing hair on her chest, back, and arms. Easy bruisability and emotional lability have been noted. She has no history of hypertension or diabetes. There is no family history of any endocrinopathy. She is not receiving...

CASE 3 Persistent Papillary Cancer Case Description

A 45-yr-old woman who had been treated for primary hypothyroidism from age 29 noted a thyroid mass in August 1994 that was cold by 123I scan and yielded indeterminate cytology by fine-needle aspiration (FNA) biopsy. At surgery done shortly after the FNA, frozen section biopsy revealed PTC and total thyroidectomy was performed. The final histologic sections showed this to be a multifocal bilateral PTC, the largest focus of which was 1.8 cm in the left lobe amidst a background of severe...

CASE 1 Child With Sclerosing Papillary Cancer Case Description

A 9-yr-old girl was referred to an endocrinologist in November 1995 after her pediatrician found a goiter. Her paternal grandmother and paternal uncle (who also had Down syndrome) both had thyroidectomies by age 20 yr for unknown reasons. The endocrinologist found the patient had high titers of antithyroid peroxidase antibodies, diagnosed Hashimoto's thyroiditis, and initiated thyroxine suppression therapy. In January 1996 her mother noted a swollen gland in the left posterior neck and in July...

CASE 2 Amenorrhea And Pituitary Neoplasm Case Description

This 20-yr-old woman presented for the evaluation of primary amenorrhea. Pubarche and thelarche began at age 13 with little progression. Her growth and developmental milestones were normal. She denied excessive thirst or urination, temperature intolerance, anosmia, weight changes, or other symptoms suggestive of an endocrinopathy. She had never experienced cyclic abdominal pain or moliminal symptoms. She was not taking any medication. There was no significant past medical history, past surgical...

CASE 1 Hirsutism Case Description

This 19-yr-old nulligravid woman presented with the chief complaint of facial hirsutism for 5 yr. Thelarche began at 8.5 yr of age and menarche occurred at 13 yr of age. Her menses were irregular, heavy, and associated with dysmenorrhea. To regulate her cycles, her general medical doctor placed her on combination oral contraceptive pills (ethinyl estradiol 35 mcg and norethindrone 1 mg). Although effective in controlling her bleeding, the contraceptives did not affect her facial hair. she...

CASE 2 Ectopic Acth Syndrome Case Description

The patient is a 45-yr-old man referred to an endocrinologist because of rapid onset of severe hypertension and lower extremity edema. Severe weakness, fatigue, and a weight gain of 10-12 lbs developed over a 3 mo period of time. He was unable to perform his job as a maintenance worker. There had been some emotional lability. His past medical history was remarkable for congenital absence of the left kidney. His family history was unknown as he was adopted. He had never smoked and rarely used...

Case Description

A 14-yr-old girl developed typical symptoms of Graves' disease, including heat intolerance, weight loss, insomnia, and declining school performance. When seen by her pediatrician, she was noted to be tachycardic, with a stare, mild proptosis, and a large goiter. Thyroid function tests were consistent with thyrotoxicosis, and she was started on methimazole 10 mg tid and atenolol 50 mg d. After 2 wk of therapy, she developed a diffuse pruritic rash, and was switched to PTU 100 tid. Over the next...

CASE 2 Localized Thyroid Pain Case Description

Case 2 is a 19-yr-old man who presented to us with 10 d of marked anterior neck pain and swelling. Two days earlier, he had been started on 60 mg of prednisone daily, which had improved the pain and reduced the neck swelling. Examination showed a 4-cm firm, tender mass in the lower right thyroid lobe and isthmus, which was hypofunctional by per-technetate scintiscanning (see Fig. 2). Free T4 and TSH levels were normal, the erythrocyte sedimentation rate (ESR) was elevated at 32 mm h, and the...

CASE 2 Graves Disease And Papillary Cancer Case Description

In March 1997, a 41-yr-old white woman presented with a recent onset of hoarseness and the history of a knot in her neck. She had heat intolerance and weight loss despite a normal appetite, and fatigue and muscle weakness. Her mother had undergone a thyroid lobectomy in the past for a thyroid mass. On examination she was clinically thyrotoxic, showing resting tachycardia, fine tremor, stare, lid lag, and a diffusely enlarged thyroid with increased fullness in the left lobe that seemed adherent...

CASE 3 Acute Hyperkalemia Case Description

A 74-yr-old female with a history of type 2 diabetes and chronic obstructive pulmonary disease (COPD) was admitted to the hospital with unstable angina. During her second hospital day, the potassium level was noted to be 7.0 mmol L (normal 3.5-5.0 mmol L). An urgent consult was requested to assist with the diagnosis and management of her hyperkalemia. The patient was diagnosed with diabetes mellitus 17 yr ago, and she was initially managed with dietary therapy. Eight years ago, she was started...

CASE 1 Tshsecreting Pituitary Adenoma Case Description

A 54-yr-old African-American woman was seen at an urgent care facility because of the recent development of palpitations. When examined, she was noted to have a pulse of 100 bpm. Her thyroid was normal in size, and the rest of the physical examination was normal. Thyroid function tests were as follows T4 14 lg dL, T3RU 43 (25-35), thyroid-stimulating hormone (TSH) 1.6 mU L. These results were interpreted as indicating that the patient was euthyroid, and she was started on a P-blocker for...

CASE 4 Thyroid Storm Case Description

A 25-yr-old woman presented to her physician two yr previously with weight loss, palpitations, and tremulousness. She was diagnosed with hyperthyroidism due to Graves' disease and started on therapy with an antithyroid drug. Because of a variety of circumstances, including an inability to afford the medication, she became increasingly symptomatic. Over the next two yr, she lost approximately 40-50 lbs, and developed significant proximal muscle weakness. When referred to the Endocrine Clinic,...

CASE 1 Recurrent Painful Hashimotos Thyroiditis Case Description

Case 1 presented to us in 1982, at age 67, after taking levothyroxine (T4) for 10 yr. Her thyroid was nontender, quite firm, and diffusely enlarged, with an estimated size of 50 g. Her antithyroid microsomal antibody titer was 1 1 600,000 and her antithyroglobulin antibody level was 50 radioimmunoassay (RIA) units*. On a T4 dose of 150 g daily, her serum thyrotropin thyroid stimulating hormone (TSH) level was 3.5 mU L (normal 0.5-5.2). The presumed diagnosis was chronic lymphocytic...

Erick J Richmond MD and Alan D Rogol MD PhD

Case 1 Accelerated Growth Due to Congenital Adrenal Hyperplasia Case 2 Growth Hormone Deficiency Case 3 Hypopituitarism from Suprasellar Mass Case 4 Short Stature Owing to Sarcoidosis Acknowledgments CASE 1 ACCELERATED GROWTH DUE TO CONGENITAL ADRENAL HYPERPLASIA This 4-yr-4-mo-old boy presented to the local pediatric endocrinologist for evaluation of accelerated growth velocity and development of pubic hair over the past year. The family history was negative. Parents were healthy and both had...

CASE 4 Its All In The Genes Case Description

A 56-yr-old Russian woman with a history of hypertension went to an emergency room (ER) with a severe headache that was unrelieved by over-the-counter analgesics. Ten years prior to this, while living in the Ukraine, she began experiencing intense throbbing bifrontal headaches that occurred two to three times a week. The headaches were accompanied by visual changes, pallor, and generalized weakness. Over the next 5 yr, the headaches became more severe and were accompanied by symptoms of...

Shalender Bhasin md Atam B Singh md and Robert Christiansen md

Case 1 23-Yr-Old Man with Adrenal Insufficiency Case 2 Topical Steroid Use Associated with Secondary Adrenal Insufficiency, Androgen Deficiency, and Osteoporosis Case 3 Gonadotropin-Independent Precocious Puberty Case 4 Delayed Pubertal Development and Nonpalpable Testes CASE 1 23-YR-OLD MAN WITH ADRENAL INSUFFICIENCY AND HYPOGONADOTROPIC HYPOGONADISM This 23-yr-old man was referred to our Endocrinology Clinic for the management of adrenal insufficiency. The patient was born of a full-term...

CASE 3 Premature Ovarian Failure Case Description

This patient was born at 35 wk's gestation to a diabetic mother. At birth, she was noted to have a slightly enlarged liver however, this was thought to be an incidental finding attributed to maternal diabetes. At 6 mo, she presented to the emergency room (ER) with a protuberant abdomen and shortness of breath. She was noted to have a large abdominal mass that was diagnosed as a neuroblastoma by biopsy. The mass was surgically excised. Subsequently, she was administered 1800 rads of whole...

CASE 2 Latent Autoimmune Diabetes In Adults Case Description

This fit, 75-yr-old male flight engineer was initially diagnosed with type 2 diabetes mellitus at the age of 73. At the time of diagnosis in November 1997, he was hospitalized with a deep-seated staphylococcus aureus infection following arthroscopic left rotator cuff repair. He was initially treated with insulin at the time of diagnosis, but later was switched to the combination of metformin and troglitazone by his primary physician. With failure of these agents to provide adequate glycemic...

Info

An adenocorticotropic hormone (ACTH) stimulation test (250 mcg) was performed as shown in Table 1. Based on his tall stature, small testicles, early pubic hair, advanced bone age, and ACTH stimulation test results, he was diagnosed with late onset adrenal hyperplasia, 21-hydroxylase deficiency, and started on prednisone 7.5 mg bid for 3 wk and then switched to hydrocortisone 10 mg tid. The initial pediatric endocrinologist referred the patient to our clinic 2 mo after the diagnosis was made...

Ira J Goldberg MD and Phillip Bukberg MD

Case 1 Diabetes with Familial Combined Hyperlipidemia Case 3 Familial Hypercholesterolemia Case 4 and 5 Unusual Levels of HDL Cholesterol CASE 1 DIABETES WITH FAMILIAL COMBINED HYPERLIPIDEMIA A 59-yr-old man presented with the diagnosis of type 2 diabetes. He was in good health until 5 yr ago when he presented to the emergency room (ER) with an episode of chest pain and numbness in his jaw that occurred as he was walking up stairs. He was admitted to the hospital, and although an acute...

References

Disorders of sex differentiation. In Wilson JD, Foster DW, eds. Williams' Textbook of Endocrinology, 1998, pp. 1303-1425. 2. Turner Syndrome. In Rosenfeld R, Grumbach, MM, eds. Marcel Decker, New York, 1990. 3. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet...

CASE 4 Progressive Diabetic Nephropathy Case Description

This 39-yr-old woman was diagnosed with type 1 diabetes mellitus at the age of 7 yr, during an evaluation for chicken pox. Presenting symptoms included weight loss and frequent urination and was found to be in ketoacidosis. Complications from diabetes at present include neuropathy, nephropathy, and proliferative retinopathy. Her only other medical problem is hypertension. Her proteinuria was initially diagnosed in 1980 (age 20) on a routine urinalysis when hospitalized for a staphylococcal...

Discussion

This patient had a long-standing history of amenorrhea and a severely atrophic vagina suggesting hypoestrogenism. Because there were no signs of another endocrine disorder, and no history to suggest an anatomic abnormality, the differential diagnosis was primarily limited to disease processes of the hypothalamic-pituitary-gonadal axis. The differential diagnosis included premature ovarian failure (POF), a lesion of the hypothalamic-pitu-itary region, and hypothalamic chronic anovulation. POF...

Kelly L Wirfel MD Douglas B Evans MD Jeffery E Lee MD Helmuth Goepfert MD and Robert F Gagel MD

Case 1 What is the Appropriate Management of an Older Patient Found to be at Risk for Medullary Thyroid Carcinoma Case 2 Sporadic vs Hereditary Medullary Thyroid Carcinoma Is Family History a Reliable Indicator for Excluding Hereditary Disease Case 3 Differential Diagnoses of Combined Islet Cell Tumor and Pheochromocytoma CASE 1 WHAT IS THE APPROPRIATE MANAGEMENT OF AN OLDER PATIENT FOUND TO BE AT RISK FOR MEDULLARY THYROID CARCINOMA An 80-yr-old white man who had been treated for primary...

Bart L Clarke md and Sundeep Khosla md

Case 1 Primary Hyperparathyroidism Case 2 Hypercalcemia Case 3 Familial Hypocalciuric Hypercalcemia with Recurrent Pancreatitis CASE 1 PRIMARY HYPERPARATHYROIDISM Case Description A 62-yr-old woman presented in the outpatient clinic with a serum calcium of 10.6 mg dL (normal, 8.9-10.1 mg dL) and phosphate of 2.8 mg dL (normal, 2.5-4.5 mg dL). Her serum total alkaline phosphatase was 160 U L (normal, 108-282 U L), and serum creatinine 0.8 mg dL (normal, 0.6-0.9 mg dL). Her whole-molecule...

CASE 5 Postirradiation Insular Thyroid Cancer Case Description

A 69-yr-old man with a history of external beam radiation therapy for acne as a teenager presented in July 1991 with superior vena cava syndrome thought owing to an enlarged thyroid. Although he could not date the onset of his symptoms precisely, his arm swelling seemed to have appeared over a few weeks. He underwent neck surgery at his local hospital where the surgeon found an invasive thyroid tumor that he considered Fig. 6. A black and white photograph of an H amp E stained slide from the...

Elena I Barengolts md and Subhash C Kukreja md

Case 1 Parathyroid Autotransplantation in Postsurgical Hypoparathyroidism Case 2 Hypoparathyroidism During Pregnancy Case 3 Osteoblastic Metastases in Prostate Cancer CASE 1 PARATHYROID AUTOTRANSPLANTATION IN POSTSURGICAL HYPOPARATHYROIDISM This 33-yr-old man presented with recurrent kidney stones and hypercalcemia, and was diagnosed as having primary hyperparathyroidism serum Ca 10-12 mg dL, serum PTH 95 pg mL . Further work-up demonstrated a growth hormone and prolactin secreting pituitary...

CASE 1 Cushings Disease Difficulties In Diagnosis Case Description

A 38-yr-old woman was referred because of a 75-lb weight gain over the past 7 yr. She has noticed some increasing facial fullness and has had some problems with climbing stairs. She has had insomnia and nocturia for the past 3 yr and complains of some easy bruisability. She recently suffered a stress fracture in her right foot. She has maintained normal menstrual periods, but has had a decreased libido. She complains of emotional lability over the past 2 yr. She denied any history of diabetes,...

CASE 1 A Rapidly Expanding Adrenal Mass Case Description

Recist Tumor Measurement

A 43-yr-old male initially presented to his primary care physician with the complaint of 3 d of right-sided abdominal pain. The pain was dull, located diffusely in the right upper quadrant of his abdomen and flank, and at times penetrated to the back. He denied any relation of the pain to food intake. In addition, he denied any jaundice, nausea, vomiting, fevers, or chills. His exam was unremarkable with the exception of mild right upper quadrant abdominal pain with moderate palpation. His...