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Aims Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by delayed or absent sexual development associated with low gonadotropin and sex steroid levels. IGD is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This study was undertaken to investigate clinical and endocrinological profiles in patients with KS and nIHH during childhood and adolescence in Korea.

international journal of pediatric endocrinology/international journal of pediatric endocrinology

Clinical, endocrinological, and molecular genetic characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism in childhood and adolescence