Introduction: Congenital adrenal hyperplasia (CAH) is an endocrine disorder due to deficient adrenal corticosteroid synthesis inherited in an autosomal recessive manner. It is characterized by reduced negative feedback inhibition of cortisol with or without alteration in adrenal mineralocorticoid and androgen secretion. Ninety percent of cases of CAH is due to 21-hydroxylase deficiency. Classical CAH presents in new-born or in early childhood with ambiguous genitalia and/or salt wasting crisis with hypotension. In a less severe form of the disease, patient presents in teenage years to early adulthood with virilising symptoms.
Case report: A 19 year old lady referred from gynaecology clinic on account of absence of menstruation. She also noticed enlargement of the clitoris of about 8 years earlier. No history of baldness, male pattern of hair distribution or deepening of the voice. There is associated excessive acne and thickening of the skin of the face. No nausea, vomiting or dizziness. No known family history of a similar problem. Examination revealed a young woman, conscious, pubic hair and breasts are Tanner stage 5. Weight was 62 kg, height 1.5 m with a BMI of 27.6 kg/m2. Blood pressure was 100/70 mmHg. Genitourinary examination showed enlarged clitoris.
Results of investigations revealed LH 3.78 mIU/ml (012), FSH 1.72 mIU/ml (19), progesterone 40.4 ng/ml (0.935), Prolactin 8.03 ng/ml (115), Testosterone 6.25 nmol/l (Female 0.72.8), oestradiol 85 pg/ml, Serum DHEA 155 ug/dl (145395). Serum 17-OH progesterone 79.46 nmol/l (0.131.41). Buccal smear showed cellular smears with sheets of superficial and intermediate squamous epithelial cells with abundant cytoplasm and small nuclei. The nuclei contain barr bodies at their periphery in more than 30% of cases. Pelvic ultrasound scan shows rudimentary uterus with regular outline and preserved endometrial echotexture. Genetic testing and 21α hydroxylase enzyme were not done due to financial constraints.
Conclusion: Non-classical congenital adrenal hyperplasia may be investigated for in patients with primary amenorrhoea.