Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in the gene encoding P450scc (CYP11A1), have been described, one in a 46,XX female and three in underandrogenized 46,XY individuals, all with primary adrenal failure.

Objective: Our aim was to determine whether P450scc mutations might be found in other children and to explore genotype/phenotype correlations.

Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report.

A 15 year-old African American phenotypic female with congenital adrenal hypoplasia and intra-abdominal testes is described; she received cortisone acetate, 9alpha-Florinef, Premarin and Provera for maintenance therapy. Evaluation for DAX1, SF1 mutations using Southern blotting, PCR, PCR amplification, coding sequences, and splice site analyses have not detected any genetic abnormalities. While only 30% of the reported DAX1 mutation defects have been identified by a variety of genetic laboratory techniques, it remains probable that this unusual patient has either a DAX1 or SF1 mutation defect.

Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis.

Monozygotic female twins with congenital adrenal hyperplasia due to 21-hydroxylase deficiency are described and evaluated over the first 6 years of life. Despite appropriate steroids, NaCl, and fludrocortisone therapies, there was significant fluctuation in the suppression of adrenal steroid secretion. Advanced bone maturation in both was noted.

Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis.

Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of euthyroid hyperthyroxinemia, although a rare example of albumin polymorphism. FDH is inherited in an autosomal dominant manner and is characterized by enhanced binding of thyroxine to a mutant form of albumin, probably at Site 1, subdomain 11A. Previous laboratory tests of FDH have been cumbersome, rarely available, and required demonstration of anti-albumin precipitable T4, isoelectric focusing of serum for albumin in presence of labeled T4 and, occasionally, comparison of the concentrations of metabolites of T4 that have different binding affinities to the abnormal albumin.

Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway?

A 30year-old Hispanic male who presented with transient neonatal diabetes mellitus at 4 months has been intensively studied with 12 islet-cell secretagogues from 4 months to 24 years. He was both ICA- and GAD-65-negative, but at 28 years was diagnosed with hypothyroidism due to positive thyroperoxidase antibodies. The course of his disease(s) and the various presentations of hyperglycemia are documented and illustrated by the responses in islet cell hormone secretion, namely, insulin, glucagon, and C-peptide.

Pheochromocytoma: clinical observations from a Brooklyn tertiary hospital.

Objective: To report eight cases of pheochromocytoma, diagnosed and treated at our tertiary hospital during a 42-month period.

Methods: We review clinical manifestations as well as historical and family data. Biochemical and radiologic methods for diagnosis and tumor localization at our institution were compared with methods at other teaching centers.

C-peptide and glucagon profiles in minority children with type 2 diabetes mellitus.

The present study was conducted to determine the extent of insulin deficiency and glucagon excess in the hyperglycemia of type 2 diabetes in children. The incidence of type 2 diabetes mellitus in children and adolescents has increased substantially over the past several years. Because insulin and glucagon action both regulate blood glucose concentration, we studied their responses to mixed meals in children with type 2 diabetes.

Decreased T3 and T4 levels following topical application of povidone-iodine in premature neonates.

Thyroid function and iodine levels of 30 preterm neonates were examined before and up to five days after topical exposure to 10% povidone-iodine application. Urinary iodine excretion significantly increased in the group closest to term (8.9 +/- 1.

The effects of a dopamine antagonist on luteinizing hormone and prolactin release in women with anorexia nervosa and in normal controls.

To evaluate the possible role of central dopaminergic suppression of gonadotropin secretion in the genesis of amenorrhea associated with anorexia nervosa (A.N.), a central D-2 dopamine receptor blocker was administered to 10 women with A.

Defective pancreatic alpha and beta cell secretion in thyrotoxicosis.

Pancreatic alpha and beta cell hormone secretion was studied in 11 patients with thyrotoxicosis before and in 7 patients after thyroid function was normalized with either prophylthiouracil or methimazole and propranolol (R). All had IV arginine and IV glucose infusions. Forty control subjects had IV arginine; 21 had IV glucose tests.

Mother-daughter interaction and adherence to diabetes regimens.

This study explores the relationship of mother-daughter interaction to adherence to treatment plans among diabetic adolescents. Fifty mother-daughter dyads discussed conflict issues and feelings, problems, and concerns related to diabetes. Discussions were analyzed using the Hill Interaction Matrix and modified Beavers-Timberlawn Family Evaluation Scales.

Decreased prolactin secretion in childhood obesity.

Twelve obese patients and 7 control subjects, age and sex matched, whose weights were greater than 200% of ideal weight and 100% of ideal body weight, respectively, underwent intravenous insulin and thyroid releasing hormone (TRH) tests. Serial prolactin growth hormone, insulin, blood sugar, cortisol, glucagon, thyrotropin stimulating hormone, thyroxine, and triiodothyronine were obtained by RIA. Obese patients showed no significant differences from controls in basal and nadir glucose, basal and peak glucagon, cortisol, and thyroid responses to both tests.

Essential hypernatraemia, antidiuretic hormone and neurophysin secretion: response to chlorpropamide.

An adolescent boy with essential hypernatremia, absent corpus callosum, mental retardation, hypodipsia, and partial diabetes insipidus with "inappropriate" ADH regulation and secretion was studied regarding factors controlling ADH and neurophysin release. Persistent hyperosmolality was noted while on 100 mEq sodium intake daily. Endogenous vasopressin activity was demonstrated after prolonged water deprivation.

Cushing's syndrome in infancy: difficulties in diagnosis and adrenal autotransplantation after therapeutic adrenalectomy.

A two-month-old female with clinical manifestations of Cushing's syndrome including mild virilization exhibited an unusual steroid pattern illustrating difficulties in diagnosis of this disorder in infancy. Unequivocal abnormalities were limited to serial elevations of serum cortisol concentration, hyperresponsiveness to ACTH, resistance of serum cortisol to dexamethasone suppression, and elevation of testosterone and dehydroepiandrosterone sulfate concentration. On the other hand, twenty-four hour urinary 17-hydroxysteroid, 17-ketosteroid, free cortisol, and 6B-hydroxycortisol excretion were normal for the age.

Turner's syndrome and carbohydrate metabolism. II. Parotid salivary insulin concentration in normal subjects and in patients with gonadal dysgenesis.

Ten children with XO gonadal dysgenesis and ten control siblings (CS) had sequential IV tolbutamide and IM glucagon tests to ascertain serum and salivary insulin concentrations, to confirm the presence of parotid salivary insulin and to determine if these concentrations were of diagnostic value in the diagnosis of insulin deficiency. After tolbutamide, peak serum insulin concentrations were lower in the patients with Turner's syndrome (TS) than in control siblings (58 +/- 10 vs 90 +/- 15 microU/ml) and fractional areas under insulin curves were significantly lower in the patients with Turner's syndrome at 10 to 15 minutes (TS: 240 +/- 16 microUmin/ml; CS: 340 +/- 46 microU-min/ml, P less than 0.05) and at 15 to 30 minutes (TS: 562 +/- 62 microU-min/ml; CS: 884 +/- 128 microU-min/ml, P less than 0.

Turner's syndrome and carbohydrate metabolism. I. Impaired insulin secretion after tolbutamide and glucagon stimulation tests: evidence of insulin deficiency.

Tolbutamide (25 mg/kg: maximum 1 mg) intravenously (IV) and glucagon (0.03 mg/kg; maximum 1 mg) intramuscularly (IM) were given sequentially to 12 untreated girls with XO-Turner's syndrome (ages 6.5 to 17.

Glucagon suppression with low-dose intramuscular insulin therapy in diabetic ketoacidosis.

The effects of low-dose intramuscular insulin therapy on endogenous glucagon secretion in diabetic ketoacidosis were compared prospectively with a conventional regimen. Ten patients, 4 to 15 years of age, who had 13 episodes of diabetic ketoacidosis, were alternately assigned to either group. Either 0.