Endocrine Abstracts

Introduction: Kallmann syndrome (KS) is a rare congenital form of hypogonadotropic hypogonadism (HH) associated with anosmia, that occurs with an incidence of 1:48,000 (1:30,000 males). Multiple separate pituitary adenomas are also rare, identified in only 0.7 % of pituitary adenoma cases.Case Presentation: A male Caucasian patient presented with absent puberty, small testicles (1 ml), microphalus, osteopenia and anosmia at age 15. Endocrine assessment c...

Background: The genetic causes of central precocious puberty (CPP) of clinical value identified to date are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Given that CPP is typically maternally inherited, however, the molecular genetic background in the majority of CPP cases remains unknown. Using candidate gene approach focused on genes regulating GnRH secretion and action so far exceedingly rare patients with CPP ...