Van Wyk-Grumbach syndrome (VWGS) is a rare complication of prolonged untreated juvenile hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries. A 13-year-old girl visited our outpatient clinic due to menstrual irregularities. She had precocious puberty, pituitary hyperplasia and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. After the initiation of L-thyroxine therapy, the symptoms were alleviated in a short time. This rare syndrome is easy to be misdiagnosed as pituitary and ovarian tumor. High degree of suspicion and timely diagnosis can prevent unnecessary surgical procedures because the symptoms can be reversed with thyroid hormone supplementation.
Adolescent ; Congenital Hypothyroidism ; complications ; diagnosis ; etiology ; Diagnosis, Differential ; Diagnostic Errors ; Female ; Humans ; Hyperpituitarism ; Hyperplasia ; Menstruation Disturbances ; etiology ; Ovarian Cysts ; diagnosis ; etiology ; Ovary ; pathology ; Pituitary Gland ; pathology ; Puberty, Precocious ; diagnosis ; etiology ; Syndrome ; Thyroxine ; therapeutic use

Myxedema ascites caused by hypothyroidism is rare, so its diagnosis is often delayed and patients frequently receive unnecessary procedures such as liver biopsies and exploratory laparotomies. We report a 71-yr-old man with clinical ascites that was the first manifestation of hypothyroidism, and which resolved completely in response to thyroid hormone replacement therapy. To our knowledge, this is the first report of myxedema ascites in Korea. A review of the literature revealed 51 well-documented cases of myxedema ascites. Analyses of ascites from patients in this condition usually show high protein (>2.5 g/dL) and low white blood cell counts, with a high proportion of lymphocytes. A consistent feature is the good response to thyroid hormone replacement therapy, which has always led to resolution of the ascites. Myxedema ascites is thus rare but easy to treat; it should be borne in mind, especially if the ascites fluid has a high protein content.
Treatment Outcome ; Thyroid Hormones/deficiency/therapeutic use ; Myxedema/*etiology/pathology ; Male ; Hypothyroidism/*complications/diagnosis/drug therapy ; Humans ; Hormone Replacement Therapy ; Diagnosis, Differential ; Ascites/*etiology/pathology ; Aged

Child ; Congenital Hypothyroidism ; diagnosis ; therapy ; Diabetes Mellitus, Type 1 ; diagnosis ; therapy ; Female ; Humans ; Male ; Obesity ; diagnosis ; etiology ; therapy ; Puberty, Precocious ; diagnosis ; therapy

Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.
Adrenal Insufficiency/diagnosis/etiology ; Adult ; Brain/diagnostic imaging ; Depression/etiology ; Female ; Hepatolenticular Degeneration/*complications ; Humans ; Hypopituitarism/complications/*diagnosis/drug therapy ; Hypothyroidism/diagnosis/etiology ; Liver Cirrhosis/complications/diagnostic imaging ; Magnetic Resonance Imaging ; Steroids/therapeutic use ; Thyrotropin-Releasing Hormone/therapeutic use

Wilson's disease typically presents symptoms associated with liver damage or neuropsychiatric disturbances, while endocrinologic abnormalities are rare. We report an unprecedented case of hypopituitarism in a patient with Wilson's disease. A 40-year-old woman presented with depression, general weakness and anorexia. Laboratory tests and imaging studies were compatible with liver cirrhosis due to Wilson's disease. Basal hormone levels and pituitary function tests indicated secondary hypothyroidism and adrenal insufficiency due to hypopituitarism. Brain MRI showed T2 hyperintense signals in both basal ganglia and midbrain but the pituitary imaging was normal. She is currently receiving chelation therapy along with thyroid hormone and steroid replacement. There may be a relationship between Wilson's disease and hypopituitarism. Copper deposition or secondary neuronal damage in the pituitary may be a possible explanation for this theory.
Adrenal Insufficiency/diagnosis/etiology ; Adult ; Brain/diagnostic imaging ; Depression/etiology ; Female ; Hepatolenticular Degeneration/*complications ; Humans ; Hypopituitarism/complications/*diagnosis/drug therapy ; Hypothyroidism/diagnosis/etiology ; Liver Cirrhosis/complications/diagnostic imaging ; Magnetic Resonance Imaging ; Steroids/therapeutic use ; Thyrotropin-Releasing Hormone/therapeutic use

PURPOSE: In childhood cancer survivors, the most common late effect is thyroid dysfunction, most notably subclinical hypothyroidism (SCH). Our study evaluated the risk factors for persistent SCH in survivors. MATERIALS AND METHODS: Survivors (n=423) were defined as patients who survived at least 2 years after cancer treatment completion. Thyroid function was assessed at this time and several years thereafter. Two groups of survivors with SCH were compared: those who regained normal thyroid function during the follow-up period (normalized group) and those who did not (persistent group). RESULTS: Overall, 104 of the 423 survivors had SCH. SCH was observed in 26% of brain or nasopharyngeal cancer survivors (11 of 43) and 21.6% of leukemia survivors (35 of 162). Sixty-two survivors regained normal thyroid function, 30 remained as persistent SCH, and 12 were lost to follow-up. The follow-up duration was 4.03 (2.15-5.78) years. Brain or nasopharyngeal cancer and Hodgkin disease were more common in the persistent group than in the normalized group (p=0.002). More patients in the persistent group received radiation (p=0.008). Radiation to the head region was higher in this group (2394±2469 cGy) than in the normalized group (894±1591 cGy; p=0.003). On multivariable analysis, lymphoma (p=0.011), brain or nasopharyngeal cancer (p=0.039), and head radiation dose ≥1800 cGy (p=0.039) were significant risk factors for persistent SCH. CONCLUSION: SCH was common in childhood cancer survivors. Brain or nasopharyngeal cancer, lymphoma, and head radiation ≥1800 cGy were significant risk factors for persistent SCH.
Age Factors ; Child ; Child, Preschool ; Female ; Humans ; Hypothyroidism/*diagnosis/*etiology/mortality ; Infant ; Male ; Neoplasms/*complications/mortality/therapy ; Retrospective Studies ; Risk Factors ; *Survivors

Myxedema coma is the extreme form of untreated hypothyroidism. In reality, few patients present comatose with severe myxedema. We describe a patient with myxedema coma which was initially misdiagnosed as a brain stem infarct. She presented to the hospital with alteration of the mental status, generalized edema, hypothermia, hypoventilation, and hypotension. Initially her brain stem reflexes were absent. After respiratory and circulatory support, her neurologic status was not improved soon. The diagnosis of myxedema coma was often missed or delayed due to various clinical findings and concomitant medical condition and precipitating factors. It is more difficult to diagnose when a patient has no medical history of hypothyroidism. A high index of clinical suspicion can make a timely diagnosis and initiate appropriate treatment. We report this case to alert clinicians considering diagnosis of myxedema coma in patients with severe decompensated metabolic state including mental change.
Aged ; Brain Stem Infarctions/diagnosis/radiography ; Diagnosis, Differential ; Diagnostic Errors ; Echocardiography ; Female ; Humans ; Hypothyroidism/complications/drug therapy ; Myxedema/*diagnosis/etiology/radiography ; Republic of Korea ; Thyroxine/therapeutic use ; Tomography, X-Ray Computed

PURPOSE: Acute kidney injury (AKI) caused by hypothyroidism-induced rhabdomyolysis is a rare and potentially life-threatening syndrome. The aim of this study was to investigate the clinical characteristics of such patients. MATERIALS AND METHODS: We retrospectively analyzed five patients treated at the Second Affiliated Hospital of Chongqing Medical University with AKI secondary to hypothyroidism-induced rhabdomyolysis from January 2006 to December 2010. RESULTS: Of the five cases reviewed (4 males, age range of 37 to 62 years), adult primary hypothyroidism was caused by amiodarone (1 case), chronic autoimmune thyroiditis (1 case), and by uncertain etiologies (3 cases). All patients presented with facial and lower extremity edema. Three patients presented with weakness, while two presented with blunted facies and oliguria. Only one patient reported experiencing myalgia and proximal muscle weakness, in addition to fatigue and chills. Creatine kinase, lactate dehydrogenase, and renal function normalized after thyroid hormone replacement, except in two patients who improved through blood purification. CONCLUSION: Hypothyroidism should be considered in patients presenting with renal impairment associated with rhabdomyolysis. Moreover, further investigation into the etiology of the hypothyroidism is warranted.
Acute Kidney Injury/*etiology/therapy ; Adult ; Amiodarone/adverse effects ; Creatine Kinase/blood ; Female ; Humans ; Hypothyroidism/*complications ; Kidney Function Tests ; L-Lactate Dehydrogenase/blood ; Male ; Middle Aged ; Retrospective Studies ; Rhabdomyolysis/diagnosis/*etiology ; Thyroiditis, Autoimmune/complications ; Treatment Outcome ; Vasodilator Agents/adverse effects

Hypothyroidism can cause a variety of signs and symptoms of the neuromuscular system. However, ptosis in a patient with hypothyroidism is very rare. We report here on a case of central hypothyroidism that was due to Sheehan's syndrome and it manifested as bilateral ptosis in a 51-yr-old woman. She complained of exertional dyspnea and weakness. About 25-yr ago, she had a history of severe postpartum vaginal bleeding. The laboratory studies demonstrated hypopituitarism with secondary hypothyroidism. The ptosis was improved by replacement of thyroid hormone. Hypothyroidism should be considered in the differential diagnosis of patients who manifest with ptosis and that prompt replacement of hormone can lead to a complete recovery.
Blepharoptosis/complications/*diagnosis/drug therapy ; Electromyography ; Female ; Glucocorticoids/therapeutic use ; Humans ; Hypopituitarism/complications/*diagnosis/drug therapy ; Hypothyroidism/complications ; Magnetic Resonance Imaging ; Middle Aged ; Muscular Diseases/etiology ; Neuromuscular Junction/physiopathology ; Prednisolone/therapeutic use ; Thyroxine/therapeutic use