Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center

Abstract

Objective: Isolated central precocious puberty (CPP) includes sporadic, familial and adoption-related forms, and the characterization of its etiology is challenging. This study investigated the prevalence and clinical characteristics of isolated CPP. Design and Methods: This observational cohort study included all patients (n=395) with CPP included in the database of a single academic pediatric care center over a period of 11.5 years. Results: In total, 332 of the 395 patients (84%) had isolated forms of CPP; the proportion of male patients was lower in this group than for non-isolated CPP (4 vs. 33%, p<0.0001). These patients had sporadic (n = 228, 68.5%), familial (n = 82, 25%) or adoption-related (n= 22, 6.5%) forms. Clinical characteristics at diagnosis were similar between groups, but girls with sporadic CPP were older at referral than those with familial or adoption-related CPP (p<0.02), and birth weight SDS was lower in adopted patients than in those from the sporadic and familial groups (p<0.01). In the 72 families containing patients with familial forms, both recessive and dominant transmissions were observed between first-degree relatives. Potential maternal or paternal transmission was identified in two thirds of the studied families, in similar proportions. An autosomal dominant mode of transmission with low penetrance was suggested by the high proportion of affected parents (33 of the 72 families, 46%). Clinical presentation was similar whatever the mode of inheritance. Conclusion: These findings highlight the need for careful monitoring of the various forms of CPP. Future studies should explore pathophysiological mechanisms, particularly for familial forms.

Central Precocious Puberty in Boys and Girls: Similarities and Differences

“…A recent large French study from single center confirmed a low proportion of boys presenting with idiopathic CPP, while this diagnosis occurred in the majority of girls (Table 3) [17]. The onset of puberty seems to be earlier in organic than in idiopathic CPP in both sexes [1][2][3]17]. Albeit the odds of detecting an underlying pathology are very high in boys with a very early presentation of pubertal findings, there is consensus that all boys with CPP should undergo brain imaging to exclude a central cause [27].…”

“…No change in the incidence of male CPP after accounting for the increase in the clinic volume during the period 2001-2010 was documented [16]. A recent large French study from single center confirmed a low proportion of boys presenting with idiopathic CPP, while this diagnosis occurred in the majority of girls (Table 3) [17]. The onset of puberty seems to be earlier in organic than in idiopathic CPP in both sexes [1][2][3]17].…”

On the rising incidence of early breast development: puberty as an adaptive escape from ectopic adiposity in mismatch girls

“…In a recent issue of the European Journal of Endocrinology, Harbulot et al . ( 11 ) reported how they performed the first test of the mismatch hypothesis, by analysing their single-centre cohort of girls with isolated variants of central precocious puberty ( n = 319) in an unprecedented way: they distinguished three subgroups and calculated the Z-scores of birthweight-for-gestational-age and BMI-at-diagnosis-of-central-precocious-puberty in each subgroup. Their findings ( Fig.…”

“…BMI at diagnosis of CPP is expressed in centiles for sex and chronological age. The authors of the original paper ( 11 ) distinguished three subgroups of girls with isolated CPP. In the 'familial' subgroup (red), the average centile rose from 50 (weight at birth) to 96 (BMI at diagnosis of CPP), for an upward mismatch of 46 centiles.…”

“…In conclusion, a vast majority of girls with isolated variants of central precocious puberty were found to have experienced an upward mismatch between prenatal and postnatal weight gain. The clinical data of Harbulot et al ( 11 ) allowed us to infer this simple message which, however, implies that treatment in most girls with precocious puberty should aim not only at silencing the gonadotropic axis but also at reducing weight gain and/or ectopic fat. Central precocious puberty in girls should henceforth be viewed as possibly reflecting the activation of the gonadotropic axis in a homeostatic and evolutionarily conserved attempt to escape from ectopic adiposity.…”