A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

This review presents a comprehensive discussion of the clinical condition of delayed
puberty, a common presentation to the pediatric endocrinologist, which may present both …

Mitochondrial disorders represent a large collection of rare syndromes that are difficult to
manage both because we do not fully understand biochemical pathogenesis and because …

The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier
and transcriptional regulator functions downstream of the transcription factor PTF1A, which …

Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic,
known as Kallmann syndrome (KS), is due to gonadotropin-releasing hormone deficiency …

Delayed puberty (DP) affects approximately 2% of adolescents. In the vast majority of
patients in both sexes, it is due to constitutional delay of growth and puberty (CDGP), a self …

Context The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of
pubertal timing, linear growth, and the acquisition of lean mass in humans and mice. In …

Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells
that control sexual reproduction. During embryonic development, GnRH neurons migrate …

The etiology of childhood appetitive traits is poorly understood. Early-life epigenetic
processes may be involved in the developmental programming of appetite regulation in …

Context Pubertal delay can be the clinical presentation of both idiopathic hypogonadotropic
hypogonadism (IHH) and self-limited delayed puberty (SLDP). Distinction between these …