Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

OBJECTIVE Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is p...

R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH decapeptide sequence. This mutation was identified in a CpG islet in nine nCHH subjects from four u...

Personal practice Management of constitutional delay of growth and puberty

Constitutional delay of growth and puberty (CDGP) is not a disease but a common condition in which puberty and its associated growth spurt occur at an age which is near the extreme of the normal range. Growth at puberty is intimately related to the stage of pubertal development and this is why, quite appropriately, both growth and puberty are implicit in the name, although it could be argued th...

Management of constitutional delay of growth and puberty.

Role of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma.

BACKGROUND The prevalence of Idiopathic Hypogonadotropic Hypogonadism (IHH) is approximately 1 in 10,000 men. Objectives of this study were to evaluate the role of basal and stimulated serum prolactin in differentiating Constitutional Delayed Puberty (CDP) from IHH. METHODS This cross-sectional study was carried out at the Department of Diabetes and Endocrinology, Military Hospital, Rawalpind...