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Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disease affecting the synthesis of cortisol, and often aldosterone as well, with an increased production of steroid precursors and androgens.1 As a result of the elevated androgens, females are virilised at birth. In contrast, non-classic CAH (NCAH) only demonstrates a slight increase of steroid precursors and androgens with mild symptoms of androgen excess such as oligomenorrhoea, hirsutism, acne and infertility.1
NCAH can easily be misdiagnosed as polycystic ovary syndrome.2 Sometimes NCAH is asymptomatic and may be found serendipitously.3 NCAH is the most frequent autosomal recessive disorder affecting 0.1-1% of the general population, however only a minority of cases is diagnosed.1
Two sisters with spontaneous abortions and fertility issues subsequently diagnosed with NCAH and excellent response to glucocorticoid therapy are presented.
Case 1
A 35-year-old married woman of Middle East origin presented with miscarriages and difficulties in conceiving. Menarche was experienced at 14 years-of-age and the menstrual cycle had always been regular. She had for the last 15 years tried to become pregnant and 10 years previously she managed to conceive but had a miscarriage at 20 weeks. However, a few months later, she conceived once more and a healthy boy was delivered at term. Some years later, she once more experienced a late miscarriage, this time at 15 weeks.
She was subsequently investigated at an infertility clinic where ovaries and uterus seemed to be normal on a vaginal ultrasound, and hysterosalpingography demonstrated normal tubes and uterus. Sperm analysis on her husband was normal. Serum testosterone was markedly elevated (6.8 nmol/L; normal 0.3-3.0), serum sexual hormone binding globulin (SHBG) was normal (40nmol/L; normal 29-95), testosterone/SHBG ratio was markedly increased (0.17; normal <0.05), serum androstenedione was elevated (22.1 nmol/L; normal 3.2-9.6) and serum dehydroepiandrostendione sulphate was normal (4.8micromol/L; normal 1.65-9.15).
She was then referred for endocrine evaluation....