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e.g., thelarche and menarche in girls and gonadarche in boys. Pubarche does
not distinguish between isosexual or heterosexual precocity as it is a common
feature in both sexes. Isosexual precocious puberty may occur with or without
premature reactivation of HPG-axis.- What is heterosexual precocious puberty?
Heterosexual precocious puberty is defined as premature development of sec-
ondary sexual characteristics in discordance with chromosomal and gonadal
sex, e.g., clitoromegaly in girls and gynecomastia in boys. Heterosexual pre-
cocity is always independent of reactivation of HPG-axis.- What are the causes of heterosexual precocious puberty?
The causes of heterosexual precocious puberty in boys include feminizing adre-
nal and testicular neoplasms, and gain-of-function mutation of aromatase.
These disorders are associated with increased secretion of estrogen or periph-
eral aromatization of androgens to estrogen. The causes of heterosexual preco-
cious puberty in girls include congenital adrenal hyperplasia, androgen- secreting
adrenal and ovarian neoplasms, aromatase deficiency, and glucocorticoid resis-
tance syndrome.- What are the features of estrogenization in a female?
Breast development, female body contour (gluteofemoral adiposity), facial
maturity, estrogenization of vaginal mucosa (dull, pink, moist, and thick vagi-
nal mucosa as compared to prepubertal thin and red vaginal mucosa), accelera-
tion of linear growth, rapid bone maturation, adult body odor, and behavioral
changes typical of puberty are the features of estrogenization in a female.- What are the features of virilization in a female?
Clitoromegaly, acne, seborrhea, temporal hair recession, low-pitched voice,
male-torso, accelerated linear growth, and rapid bone maturation are the char-
acteristic manifestations of virilization. This is usually accompanied with hir-
sutism; however, isolated hirsutism is not considered as a manifestation of
virilization.- What are the clinical pointers toward etiological diagnosis of precocious
puberty?
The clinical pointers that suggest the etiological diagnosis of precocious
puberty include café-au-lait macule and bony swellings (McCune–Albright
Syndrome), lentigines (Carney’s complex), adenoma sebaceum and shagreen
patches (tuberous sclerosis), neurofibroma and optic glioma (neurofibromatosis
type 1), gelastic seizures (tuber cinereum hamartoma), features of raised intra-
cranial tension (suprasellar mass, e.g. germinoma, arachnoid cyst and pilocytic
6 Precocious Puberty