The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare,
related diseases that prevent normal pubertal development and cause infertility in affected …

Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells
that control sexual reproduction. During embryonic development, GnRH neurons migrate …

Distinguishing between self limited delayed puberty (SLDP) and congenital
hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and …

Introduction Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and
genetically heterogeneous disorder. Deleterious variants in over 50 genes have been …

Kallmann syndrome (KS) is a rare hereditary disease with high phenotypic and genetic
heterogeneity. Congenital hypogonadotropic hypogonadism and hyposmia/anosmia are the …

Introduction Congenital hypogonadotropic hypogonadism (CHH) is a genetic disorder of
reproduction and development, characterized by deficient gonadotropin-releasing hormone …

Context Clinical management of congenital hypogonadotropic hypogonadism (CHH)
remains a challenge in pediatric endocrinology. Objective To investigate whether daily …

Objective To analyze the prevalence of FGFR1, FGF8, and FGF17 mutations in a Chinese
cohort with idiopathic hypogonadotropic hypogonadism (IHH) and to characterize the …

CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of
growth and/or development, Genital hypoplasia, Ear anomalies including hearing loss) …