OBJECTIVE -To report the long-term follow-up of three nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. RESEARCH DESIGN AND METHODS -Oral glucose tolerance test (OGTT) andvenous 24-h glucose-insulin profile were performed yearly from adolescence.RESULTS -Patient 1 (now aged 31 years) developed insulin-dependent diabetes at the age of 25 years. In patient 2 (now aged 17 years), impaired fasting glucose and a diabetic OGTT response with normal A1C values have been observed since the age of 10 years. In patient 3 (now aged 24 years), intolerant OGTT response and hyperglycemic episodes with normal A1C have been observed since the age of 16 years. All patients presented relatively low insulin levels during hyperglycemia, normal BMI, and negative autoantibodies (GAD antibody, insulinomaassociated protein 2, and islet cell antibody).CONCLUSIONS -Development of glucose metabolism impairment ranging from glucose intolerance to insulin-dependent diabetes is observed in the evolution of these patients. Diabetes Care 31:1257-1259, 2008P ersistent hyperinsulinemic hypoglycemia of infancy (PHHI) is characterized by insulin oversecretion and severe hypoglycemia. The most common cause is inactivating mutations in ABCC8 gene, although mutations in other genes have also been described (1,2).Patients with ABCC8 gene mutations have severe neonatal forms, and nonresponders to medical treatment require pancreatectomy. Little is known of the long-term outcome of nonpancreatectomized patients (3). The follow-up of three nonpancreatectomized patients is reported.RESEARCH DESIGN AND METHODS -We studied three nonpancreatectomized male PHHI patients unresponsive to diazoxide and with ABCC8 gene mutations whom we followed up from the neonatal period. Diagnosis in the neonatal period was based on the following: 1) hypoglycemic episodes; 2) high carbohydrate requirements (Ͼ15 mg ⅐ kg Ϫ1 ⅐ min Ϫ1 ) to maintain normoglycemia; 3) low plasma free fatty acid (Ͻ1.5 mmol/l), low ketone body values (Ͻ2 mmol/l), and unsuppressed insulin levels (glucose-to-insulin ratio Ͻ3) during hypoglycemia; 4) glucagon (0.1 mg/kg) response of hypoglycemic episodes (glycemia Ͼ50 mg/dl); and 5) nonresponse to diazoxide (15 mg ⅐ kg Ϫ1 ⅐ day Ϫ1 [failure to maintain glycemia Ͼ50 mg/dl with carbohydrate intake Ͼ15 mg ⅐ kg Ϫ1 ⅐ min Ϫ1 ]) (3).ABCC8 gene study (39 exons and intron-exon boundaries) showed the following: patient 1, 2800CϾT (R934X; exon 23) and 3992-9GϾA (intron 32), parents not evaluated; patient 2, 3576delG (L1191LfsX1207; exon 29, paternal) and 3751CϾT (R1251X; exon 30, maternal); and patient 3, 3443TϾG (L1148R; exon 28, maternal) and 3751CϾT (R1251X; exon 30, paternal) (4).Patients received continuous enteral nutrition during the neonatal period and the first 3 months of life, including the carbohydrate intake necessary to maintain glycemic values Ͼ50 mg/dl. From then until 6 months of age, intervals between daytime feeds were prolonged progressively up to every 3 h and nighttime cont...
Background: FSH-secreting pituitary adenomas are extremely rare in children and are seldom associated with clinical manifestations of high serum gonadotrophin levels. Thus, most patients have a late presentation, usually as macroadenomas. Case Reports: Two different clinical forms of presentation of FSH-secreting pituitary adenomas are reported: one in a 12-year-old boy with macroorchidism due to a pituitary microadenoma, probably FSH-secreting, and the other in a 15-year-old boy with panhypopituitarism due to an FSH-producing macroadenoma. Both patients presented slightly high or high FSH with low LH and high inhibin B levels. In the first case, the microadenoma was treated medically with cabergoline, which failed to reduce FSH and inhibin B levels. No radiological progression has been observed despite increasing testicular volume. In the second case, surgery was performed on the macroadenoma, leading to a decrease in FSH and inhibin B levels. The patient developed severe hypothalamic obesity and is currently under treatment with somatostatin. Conclusions: FSH-secreting pituitary tumors have an extremely variable clinical expression. The discrepancy between normal or slightly increased FSH and low LH values, together with high inhibin B levels, strongly suggests FSH hypersecretion which should be studied.
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