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

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...

The psychological outcome of constitutional delay of growth and puberty.

Does being of short stature (SS) matter? Growth studies are important because endocrinologists need to be able to give not only diagnostic but also prognostic indication to those of SS, and give advice for or against treatment. Studies on body height may give significant insight into the behavioural-hypothalamic-pituitary axis underlying the surface effect on social behaviour. This research pre...

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.