Background: The optimal timing and appropriate first-line investigations for delayed menarche in an otherwise well teenager with fully developed secondary sexual characteristics is debatable.
Case presentation: A 15 year-old female presented with parental concerns of cliteromegaly. Facial acne and primary amenorrhoea were also noted. Pubic hair development started at age 10 years and breast development age 12 years. Family history revealed delayed menarche in her mother (age 17 years). On examination, she was Tanner stage 4 (B4, P4) with normal height (SDS 1.55), weight (SDS0.41) and BMI (SDS−0.26). On examination, the clitoris was normal and there was no hepatosplenomegaly or masses on abdominal palpation. Investigations to exclude adrenal causes associated with primary amenorrhoea demonstrated normal LH (6.2 UI/l), FSH (8.7 UI/l), androstendione (5.4 nmol/l), DHEAS (1 umol/l) and 17OH-Progesterone (1.8 nmol/l), but elevated testosterone (5.3 nmol/l). Transabdominal pelvic ultrasound (US) scan was normal. The 24-h urinary steroid profile (USP) revealed high a-cortolone (1592 μg/24 h (N: 738±183)) compatible with portal hypertension; androstenetriol (2646 μg/24 h (N: 107±62)) was significantly elevated and tetrahydrocortisol (1237 μg/24 h (N: 1683±355)) low. Repeat analysis post Dexamethasone suppression showed a similar profile and excluded exogenous sources of steroid. Further investigations confirmed autoimmune hepatitis. Referral was made to a paediatric liver unit.
Conclusion: Initial investigations were guided by the patients clinical features. The diagnosis was suggested by the urine steroid profile requested to exclude adrenal pathology. Clinical stigmata of chronic liver disease were absent. The relative increase of a-cortolone in the USP has previously been demonstrated in cirrhosis, but raised androstenetriol has not been previously reported. There was also a low ratio of cortisone (11-oxy) relative to cortisol (11-hydroxy) metabolites, which is not an invariant feature, but is likely to reflect impairment of 11-hyroxysteriod dehydrogenase-1 in hepatocytes. Although primary amenorrhoea is often physiological in teenage girls, it may also be the first presenting sign of an underlying chronic disease. Careful evaluation is always needed. o avoid missing an alternative diagnosis.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology