In the adult male, the testes produce both sperm and testosterone. The function of the
testicles is directed by the central nervous system and pituitary gland. Precise regulation of …

Ovarian failure (OF) at age< 40 years occurs in∼ 1% of all women. Other than karyotype
abnormalities, very few genes are known to be associated with this ovarian dysfunction. We …

A functional GnRH receptor (GnRH‐R) in the anterior pituitary is critical for normal LH/FSH
secretion, pubertal development and reproduction. Inactivating mutations of the GnRH‐R …

The ability to diagnose and manage disorders that cause delayed puberty requires a
thorough understanding of the physical and hormonal events of puberty. Wide variation …

A number of mutations are known to disturb the development and function of the
hypothalamic-pituitary-gonadal axis. They affect hypothalamic-pituitary-gonadal function at …

Spontaneous 46, XX premature ovarian failure is not rare. The agespecific incidence is
approximately 1 in 250 women by age 35 and 1 in 100 by age 40 [1]. Young women with the …

A 40-year-old woman referred for evaluation of markedly elevated levels of luteinizing
hormone—identified in the course of an infertility workup—is the subject of this Brief Report …

The vast amount of progress in our understanding of the genetic control of biological
phenomena has now made possible the unravelling of the molecular pathogenesis of …

BACKGROUND Women who present with elevated gonadotropins, primary amenorrhea,
and sexual infantilism usually have an abnormal karyotype or premature ovarian failure. We …

Puberty is a complex process, which involves the activation of hypothalamic function and
maturation of the pituitary-gonadal axis. Disordered pubertal development, in the form of …