Premature pubarche before one year of age: distinguishing between mini-puberty variants and precocious puberty.

BACKGROUND: The aim of this study was to facilitate the distinction between the benign "mini-puberty of early infancy" and precocious puberty (PP). MATERIAL AND METHODS: We compared 59 patients (21 boys and 38 girls) seen for pubic hair development before one year of age diagnosed as mini-puberty to 13 patients (2 boys) in whom pubertal development before one year revealed a PP. RESULTS: The boys with mini-puberty presented with pubic hair development and prepubertal testicular volume, with low plasma testosterone concentrations. Their gonadotropin responses to gonadotropin releasing hormone (GnRH) test showed predominant luteinising hormone increase in 9/13. The girls presented with pubic hair development that was accompanied by breast development in 47% of cases, with low plasma estradiol concentrations. Their gonadotropin responses showed predominant follicle-stimulating hormone increase in the 17 evaluated. The patients with PP had organic central PP (5 hypothalamic hamartoma) or idiopathic central PP (n=6), or peripheral PP (one ovarian tumor and one congenital adrenal hyperplasia). The diagnosis was challenging only in 3 girls with idiopathic central PP presenting with prepubertal plasma estradiol concentrations and responses to GnRH test. CONCLUSIONS: The diagnosis of PP was easily determined based on the clinical presentation and the pubertal concentrations of testosterone in boys or of estradiol in girls, as was the diagnosis of central or peripheral origin of PP based on gonadotropin response to the GnRH test. Once PP is excluded, these patients need careful follow-up and physician consultation is needed if clinical pubertal signs progress.

Diazoxide in Children With Obesity After Hypothalamic-Pituitary Lesions: A Randomized, Placebo-Controlled Trial.

OBJECTIVE: The objective was to evaluate the safety and efficacy of diazoxide (DZX) for decreasing obesity with hyperinsulinemia in patients treated for hypothalamic-pituitary lesions during childhood. DESIGN: This was a double-blind, placebo-controlled trial in parallel groups using a centralized randomization process (PEDIAC). SETTING: This was a single-center study. PATIENTS: Among the 40 patients included, 35 fulfilled the study requirements. INTERVENTIONS: Interventions included six-month treatment with DZX (4 mg/kg/d) or placebo. MAIN OUTCOME MEASURES: The primary outcome was relative weight change at 2 months. Secondary outcomes were changes in absolute weight, plasma insulin concentrations, glucose peak after oral glucose tolerance test (OGTT), and glycosylated hemoglobin after 2 months. RESULTS: Eighteen participants were randomized to the DZX group; three withdrew their consent or were excluded after the occurrence of diabetes mellitus at days 10, 10, and 35, respectively; and two dropped out because of protocol non-compliance at day 10. No statistically significant differences in baseline characteristics were observed among the 13 DZX patients and the 17 placebo patients. The relative weight changes at 2 months in the DZX and placebo groups were -0.9 and -0.5%, respectively (P = nonsignificant). No statistically significant differences were observed between the groups concerning the change in absolute weight or glycosylated hemoglobin after 2 months, but the plasma glucose concentrations (basal and after OGTT) were significantly greater in the patients receiving DZX treatment vs those receiving the placebo, whereas the plasma increases in insulin after OGTT were lower. CONCLUSIONS: The 2-month treatment with DZX was not associated with a significant change in weight compared with placebo; however, it was associated with the occurrence of diabetes mellitus in three of 18 patients.

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

BACKGROUND: The majority of the patients reported with mutations in isolated hypogonadotropic hypogonadism (HH) are adults. We analysed the presentation and the plasma inhibin B and anti-müllerian hormone (AMH) concentrations during childhood and adolescence, and compared them to the genetic results. METHODS: This was a retrospective, single-center study of 46 boys with HH. RESULTS: Fourteen (30.4%) had Kallmann syndrome (KS), 4 (8.7%) had CHARGE syndrome and 28 (60.9%) had HH without olfaction deficit nor olfactive bulb hypoplasia. Eighteen (39%) had an associated malformation or syndromes. At diagnosis, 22 (47.8%) boys were aged