Endocrine Abstracts

Objective: Congenital hypogonadotropic hypogonadism (CHH) results from isolated GnRH deficiency and may present with normal sense of smell (nCHH), anosmia (Kallmann syndrome, KS) or in syndromic forms. Genetic defects are identified in approximately half of CHH cases and oligogenicity is noted in almost 10%. Further, spontaneous reversal of is seen in 15% of patients.Methods: We analyzed the clinical characteristics of 37 Serbian CHH probands (34 sporadi...

Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...

Background: Hypogonadotrophic hypogonadism is characterised by hypogonadism in the context of low/inappropriately normal gonadotrophin levels. Congenital Hypogonadotrophic Hypogonadism (CHH) occurs due to disrupted GnRH neuronal migration, or impaired hypothalamic GnRH secretion or action. However, no direct test of hypothalamic GnRH neuronal function currently exists. Kisspeptin-54 is a neuropeptide that stimulates endogenous hypothalamic GnRH release. Thus, we investigated w...

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...