B. Precocious puberty of peripheral origin (precocious pseudopuberty) 1. Autonomous gonadal hypersecretion a.
b.
2. Congenital adrenal hyperplasia a. 21-Hydroxylase (P450c21) deficiency b. 11β-Hydroxylase (P450c11) deficiency c. 3β-Hydroxysteroid dehydrogenase deficiency 3.
Iatrogenic ingestion/absorption of estrogens or androgens 4.
5.
a. Human chorionic gonadotropin secreting i. Ectopic germinomas (pinealomas)
Table 29.1 Continued ii. Choriocarcinomas iii. Teratomas iv.
b.
6. Gonadal neoplasms a.
i.
ii.
b.
i.
ii.
7. Adrenal neoplasms a.
b.
IV.
A.
B.
Nonclassic forms of congenital adrenal hyperplasia
C.
D.
E.
Rare forms of male pseudohermaphroditism (Reifenstein syndrome, 5a-reductase deficiency)
F.
G.
2.
Asynchronous pubertal development is characterized by pubertal development that deviates from the normal pattern of puberty.
3.
Precocious puberty is defined as pubertal development beginning before the age of 7 years in white girls and before the age of 6 years in African American girls (6). This new definition is controversial and is challenged because some feel that evaluation for breast or pubic hair development before 9 or 8 years of age in white or African American girls, respectively, may be warranted (26). It is clear that, in most cases, development nearer to the mean age of puberty is less likely to have a pathologic basis. Precocious pubertal development is characterized in several ways. In isosexual precocious puberty, the early changes are common to the phenotypic sex of the individual. In heterosexual precocious puberty, the development is characteristic of the opposite sex. Precocious puberty is sometimes termed “true” when it is of central origin with activation of the hypothalamic–pituitary unit. In precocious pseudopuberty, also known as precocious puberty of peripheral origin, secretion of hormones in the periphery (commonly by neoplasms) stimulates pubertal development.
4.
Heterosexual puberty is characterized by a pattern of development that is typical of the opposite sex occurring at the expected age of normal puberty.
Disorders of sexual development and amenorrhea may be considered in relation to this classification of the aberrations of puberty. It is very helpful to document the growth of the individual and to plot the individual’s height and weight on one of several commonly available growth charts (Fig. 29.7).
Figure 29.7 Growth chart showing stature by age percentiles for girls aged 2 to 18 years. Weight can be plotted in a similar fashion. Several excellent growth charts are available to clinicians, including those from Ross Laboratories (Columbus, OH), Serono Laboratories (Randolph, MA), and Genentech, Inc. (South San Francisco, CA). (From Hamill PVV, Drizd TA, Johnson CL, et al. Physical growth: National Center for Health Statistics percentiles. Am J Clin Nutr 1979;32:607–629, with permission; based on data from the National Center for Health Statistics.)
The history and physical examination, with particular attention to growth, are most important in the evaluation of individuals with delayed puberty. Pubertal delay is much more common in boys than in girls. It is important to remember that puberty may be delayed in any child suffering from any severe chronic disease, including celiac disease, Crohn disease, sickle cell anemia, and cystic fibrosis. Chronic illness should be reviewed during the history and physical examination. One possible approach to evaluation is depicted in Figure 29.8.
Check T4, TSH