Recent advances in the understanding and management of delayed puberty

  title={Recent advances in the understanding and management of delayed puberty},
  author={Christina Wei and Elizabeth C. Crowne},
  journal={Archives of Disease in Childhood},
  pages={481 - 488}
Delayed puberty, especially in boys, is a common presentation in paediatrics. Recent advances have improved our understanding of the neuroendocrine, genetic and environmental factors controlling pubertal development, and hence inform the pathophysiology of delayed puberty. The discovery of kisspeptin signalling through its receptor identified neuroendocrine mechanisms controlling the gonadotrophin-releasing hormone (GnRH) pulse generator at the onset of puberty. Genetic mechanisms from single… 

Delayed puberty in the female patient

Insuring appropriate pubertal progression, optimizing height and bone health, as well as preservation of psychosocial well-being are the ultimate goals of management of delayed puberty.

Puberty: Normal, Delayed, and Precocious

The diagnosis, treatment, and nursing implications of either precocious or delayed puberty will be discussed in this chapter.

OR11-01 Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay

The kisspeptin-stimulation test can be used to reveal future reproductive endocrine potential in prepubertal children and is a promising novel tool for predicting pubertal outcomes for children with delayed puberty.

Evaluation of delayed puberty: what diagnostic tests should be performed in the seemingly otherwise well adolescent?

The literature and data reveal wide variability in the number of tests performed and raise the question of whether tests, other than gonadotropins, obtained in the absence of signs or symptoms of an underlying disorder are routinely warranted, which provides a pragmatic rationale for revisiting recommendations calling for broad testing.

Paediatric and adult-onset male hypogonadism

This Primer focuses on a reappraisal of the physiological role of testosterone, with emphasis on the critical interpretation of the hypog onadal conditions throughout the lifespan of the male individual, with the exception of hypogonadal states resulting from congenital disorders of sex development.

Disorders of puberty.

Timing of Pubertal Onset in Girls and Boys with Constitutional Delay.

A broad range of ages at pubertal entry for children with constitutional delay challenges the concept that constitutional delay is merely an extreme of normal variation and should consider the possibility that some children may need to wait years after presentation until puberty starts.

Genetics of pubertal timing

There has been significant progress in identifying genetic loci that affect normal pubertal timing, and the first single-gene causes of precocious and delayed puberty are being described, and how these genes influence pupertal timing remains to be determined.



Transition in endocrinology: induction of puberty.

This review is intended to highlight those current practices in diagnosis and management that are evidence based and those that are not; to help clinicians deal with areas of uncertainty with reference to physiologic first principles; and to illustrate how recent scientific advances are altering clinician perceptions of pubertal delay.

Inducing puberty.

In hypog onadotropic hypogonadism puberty can be initiated by the use of pulsatile GnRH, gonadotropins, and sex steroids, which will induce development of the secondary sex characteristics alone and combined administration of gonadotropicins and GnRH may induce gonadal development including fertility.

A new pathway in the control of the initiation of puberty: the MKRN3 gene.

These recent human and animal findings suggest that MKRN3 plays an inhibitory role in the reproductive axis to represent a new pathway in pubertal regulation.

Variation in the timing of puberty: clinical spectrum and genetic investigation.

How new advances in genetic research may provide the tools to help unravel the mystery of the factors that regulate the hypothalamic-pituitary-gonadal axis and modulate the timing of puberty are discussed.

Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty.

The data suggest that a GnRH test in combination with both a 3-d and 19-d HCG test may aid in differentiating between CDGP and HH, which are significantly lower in patients with HH compared with CDGP.

The GPR54 gene as a regulator of puberty.

Mutations in GPR54, a G protein-coupled receptor gene, cause autosomal recessive idiopathic hypogonadotropic hypogOnadism in humans and mice, suggesting that this receptor is essential for normal gonadotropin-releasing hormone physiology and for puberty.

New understandings of the genetic basis of isolated idiopathic central hypogonadism.

The description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH, justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance.

Delayed puberty: analysis of a large case series from an academic center.

The results underscore the importance of performing a thorough evaluation and family history in adolescents with delayed puberty and provide clues for unraveling the mechanism(s) of idiopathic pubertal delay and lead to the hypothesis that the pubertals seen among some subjects with FHH and CD may stem in part from similar underlying physiology.

Effects of obesity on human sexual development

Evidence in girls is less clear, with the majority of studies showing obesity to be associated with earlier puberty and voice break, although a subgroup of boys with obesity exhibits late puberty, perhaps as a variation of constitutional delay in growth and puberty.