Background/Aims: Recently, loss-of-function mutations in the MKRN3 gene have been
implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We …

Pituitary stalk interruption and ectopic posterior lobe on magnetic resonance imaging (MRI)
are frequently observed in patients with GH deficiency (GHD), but their pathogenesis …

P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital
adrenal hyperplasia characterized by hypertension, hypokalemia, and impaired production …

Background It has been recommended that basal luteinising hormone (LH) levels be used
as the initial test to identify cases of central precocious puberty (CPP) in children. However …

Celebrating more than twenty years as the single best source in the field, this Fifth Edition
has now expanded into two cornerstone volumes with 53 fully inclusive chapters and 73 …

Background Recent studies demonstrated that changes in DNA methylation (DNAm) and
inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty …

Several point mutations in the GnRH receptor gene have been described in an autosomal
recessive form of congenital isolated hypogonadotropic hypogonadism (HH). We …

Purpose A gonadotropin-releasing hormone stimulation test (GnRHST) is the gold standard
in diagnosing central precocious puberty (CPP). The aim of this study was to investigate the …

This chapter begins with a basic science update on the development of the female
reproductive system. This starts with sections on maturation of the neuroendocrine-ovarian …

The diagnosis of central isosexual precocity, a condition much more common in girls than in
boys, is currently viewed as a spectrum of disorders between isolated premature thelarche …