Sexual ambiguities have been diagnosed during the neonatal period.
However, pubertal development may be associated with progressive hyperandrogenia or virilization including hirsutism, seborrhea, severe acne, alopecia and hyperclitoridism. Clinical hyperandrogenia must be specified by biological evaluation with measurement of plasma androgens, LH and FSH, and assessment of the corticotroph axis including basal and ACTH-stimulated 17-hydroxyprogesterone measurement and ultrasonographic ovarian evaluation.
Mild Adrenal Hyperplasia with Partial Enzymatic Blockage
There are other familial cases of hyperandrogenia or known enzymatic deficiency, short stature and mild hyperandrogenia. Elevated basal or stimulated 17-hydroxyprogesterone suggests the diagnosis of 21-hydroxylase deficiency.
11β-Hydroxylase and 3β-hydroxysteroid deshydrogenase are less frequently involved.
Polycystic Ovarian Syndrome (PCO) with Primary Amenorrhea
PCO is suggested by obesity, the presence of acanthosis nigricans reflecting a hyperinsulinic state, hyperandrogenia, and clinical signs of hyperestrogenia.
Hormonal evaluation shows high levels of androgens, especially 4-androstenedione and total testosterone. Basal level of LH is elevated with a strong response to LHRH while FSH remains low. Insulin is high, as well as sex-binding globulin. Ultrasonographic exam shows a typical aspect of the ovaries including enlarged gonads, stromal hypertrophy and multiple peripheral polymicrocysts.
Rapid virilization and very high levels of plasmatic androgens require ultrasonographic and radiologic examination to look for an ovarian or adrenal androgen-secreting tumor during peripuberty.
Revision date: July 5, 2011
Last revised: by Janet A. Staessen, MD, PhD