Endocrine Abstracts

CPP results from premature reactivation of the hypothalamo–pituitary–gonadal axis and pulsatile GnRH secretion, with a hormonal pattern similar to that of normal puberty. Recent studies have implicated the activation of Kisspeptin and its receptor and the inactivation of MKRN3 genes in CPP. MKRN3 gene defects are currently an identified genetic cause of paternally transmitted familial CPP, but such defects do not underlie maternally transmitted CPP and are rarely involved in sporadic forms. Premature sexual maturation is a frequent cause for referral. Clinical evaluation is generally sufficient to reassure the patients and their families, but premature sexual maturation may reveal severe conditions and thorough evaluation is therefore required to identify its cause and potential for progression, so that appropriate treatment can be proposed. If a non-progressive form of PP is suspected, it is recommended to wait a few months and then to reassess the patient, to avoid unnecessary treatment. CPP may be due to hypothalamic lesions or idiopathic in most cases, particularly in girls. It may have consequences for growth and psychosocial development. GnRH agonists (GnRHa) are the standard treatment for progressive CPP. Such treatment results in the regression or stabilization of pubertal symptoms, and decreases in growth velocity and bone age advancement. The factors affecting height outcome include initial patient characteristics and duration of treatment. After the cessation of GnRHa therapy, generally at an age of about 11 years, biological and clinical signs of puberty reappear within months, with most girls achieving menarche, with menstrual ovulation cycles, during the following year. PP associated with the presence of a hypothalamic lesion may progress to gonadotropin deficiency. The available data indicate that long-term GnRHa treatment does not seem to cause or aggravate obesity or have repercussions for body composition, bone mineral density and fertility. However, data concerning psychosocial outcomes are scarce.