Introduction: Congenital adrenal hyperplasia is a group of autosomal recessive diseases, caused by mutations in the enzymes implicated in the synthesis of cortisol. In females, the classical pattern is characterized by progressive virilisation, short stature and in severe cases, by salt wasting in the newborn.
Results: We present the case of a 14 years old female patient, who was referred to our clinic for primary amenorrhea. Her personal and family history was unremarkable. The patients height was normal (166 cm), Tanner stage was B2P3, pubarche occurred at age 78 years, external genital organs and blood pressure were normal and she presented only very mild hirsutism on her upper lip (Ferriman-Gallwey score=2). The pelvic ultrasound revealed a normal-for-age uterus and ovaries. The X-ray of the hand revealed closed growth cartilages. A triptoreline stimulation test showed a pubertal increase in the serum LH levels. Serum pituitary and adrenal hormonal levels were within normal range, except increased androgens: 17 OH-progesterone=64.70 ng/ml (normal range 0.071.7), dehydroepiandrosterone sulphate=368 μg/dl (45270), androstendione=19.5 ng/ml (0.33.5), testosterone=1.49 ng/ml (0.140.76). The abdominal computed tomography showed bilateral adrenal hyperplasia, which was probably due to CYP 21A2 deficiency (genetic testing pending).
Conclusion: Despite high levels of 17 OH-progesterone and adrenal androgens, this adolescent girl with congenital adrenal hyperplasia and amenorrhea had almost no signs of virilisation and a normal height (based on the mid-parental target height), although she had advanced bone age. These features may be suggestive for a concurrent partial peripheral resistance to androgens.
25 - 29 Apr 2009
European Society of Endocrinology