Jornal de relatos de casos clínicos

An Usual Case of Congenital Pulmonary Stenosis

Abstract

Ashraf MU, Aslam M, Zaheer SM and Ashraf J

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is caused by the lack of production or physiological response to gonadotropin releasing hormone (GnRH). A wide variety of genetic mutations have been implicated in the disorder demonstrating autosomal dominant, recessive and X-linked inheritance patterns. Diagnosis of IHH is complicated by its similarity in presentation to a constitutional delay of puberty (CDP) and often goes undiagnosed in patients under the age of 18. Once IHH is identified, the effects of the disturbed HPA axis must be addressed. In this report, we offer a brief overview of the diagnosis and management of IHH and present the case of a 27 year old male with undiagnosed IHH.