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CONTEXT Kisspeptin, encoded by the KISS1 gene, is a key stimulatory factor of GnRH secretion and puberty onset. Inactivating mutations of its receptor (KISS1R) cause isolated hypogonadotropic hypogonadism (IHH). A unique KISS1R-activating mutation was described in central precocious puberty (CPP). OBJECTIVE Our objective was to investigate KISS1 mutations(More)
OBJECTIVE To report genotype-phenotype correlation in a large cohort of patients. CONTEXT Study of the CYP21A2 gene in 866 unrelated chromosomes of 21-hydroxylase deficiency in Argentinean patients with classic and nonclassic (NC) forms of congenital adrenal hyperplasia (CAH). METHODS Eleven most common mutations were analysed by allele-specific(More)
OBJECTIVE The aim of this study was to evaluate the possibility of persistence of autonomous ovarian activity in girls with McCune-Albright syndrome (MAS) after withdrawal of medroxyprogesterone therapy administered for precocious puberty. DESIGN, SETTING, AND PARTICIPANTS Five girls with MAS were followed-up 1.2 to 8.5 years after the end of treatment.(More)
UNLABELLED Some adolescents with a history of idiopathic central precocious puberty (ICPP) develop hyperandrogenism. HYPOTHESIS Luteinizing hormone (LH) hypersecretion could be a common mechanism underlying ICPP and polycystic ovary syndrome. AIM To explore the GnRH-LH axis in those patients. DESIGN To compare overnight LH secretion in 7 healthy(More)
OBJECTIVE SHBG is a circulating glycoprotein that binds dihydrotestosterone, testosterone and oestradiol with high affinity and low capacity. In girls, serum concentrations of SHBG gradually decrease with age due to a true fall in concentration and not to a change in the binding characteristics. The aim of our study was to determine the pattern of serum(More)
UNLABELLED Gonadotroph adenomas are difficult to diagnose since they usually show as nonsecreting tumors or produce biologically inactive hormones with no clinical effects and classically grow silent until neurological symptoms appear. Presentation with bilateral ovarian masses and ovarian hyperstimulation has been described in fertile years. Gonadotroph(More)
CONTEXT The GnRH test is the gold standard to confirm the diagnosis of central precocious puberty (CPP); however, this compound is not always readily available. Diagnostic accuracy of subcutaneous GnRH analogues tests compared to classical GnRH test has not been reported. OBJECTIVE To evaluate the diagnostic accuracy of Triptorelin test (index test)(More)
Twenty-two prepubertal girls with hypertrichosis were studied and compared to 10 prepubertal normal girls. Hypertrichosis was assessed according to a score that considers the amount and the distribution of vellus hair in androgen- and non-androgen-sensitive areas. Serum androgen profile and free androgen index (FAI) were determined in both groups. The(More)
BACKGROUND In girls with Idiopathic Central Precocious Puberty (ICPP) concern has been raised by the potential impact of GnRH-analogues (GnRHa) treatment on body weight. We evaluated the effect of GnRHa on Body Mass Index (BMI) in girls with ICPP according to weight status at diagnosis. METHODS One hundred seventeen ICPP girls were divided according to(More)