ESPE2016 Poster Presentations Gonads & DSD P2 (59 abstracts)
aMVZ Praxis im Chilehaus, Pediatric Endocrinology, Andrology, Sexual Medicine, Hamburg, Germany; bGöteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
Background: Aurantiasis cutis is a condition of yellowish or golden skin discoloration that can result from eating excessive amounts of foods containing carotene leading to hypercarotenemia, described causing secondary amenorrhea.
Objective and hypotheses: Hypercarotenemia can cause secondary amenorrhea without overconsumption of excessive quantities of carotene.
Method: A 16-year-old girl presented to our endocrine outpatient clinic with a 2-year history of varying yellow discoloration of her skin and secondary amenorrhea. The findings from the general physical examination were normal, but there was a marked yellow discoloration of the palms, soles, and nasolabial folds. A dietary history revealed a low carotene diet, but also a low carbohydrate diet. BMI was 19.9 kg/m2 (−0.2 SDS) without signs of anorexia.
Results: See Table 1.
Laboratory findings | Units | Reference range |
ß-carotin | 2230 μg/l | (2351040) |
Bilirubin (total) | 0.4 mg/dl | (0.21.0) |
GOT (AST) | 26 U/l | (1541) |
FSH | 7.0 IU/l | (2.210.1) |
LH | 4.2 IU/l | (1.052.2) |
Estradiol-17ß | 49.4 ng/l | (16.1238,3) |
17-OH-Progesterone | 0.73 μg/l | (0.12.2) |
Conclusion: In this girl we observed hypercarotenemia associated with secondary non-hypothalamic amenorrhea in absence of excess external intake of carotenes. This suggests an intrinsic reason due to a polymorphism in ß-carotene 15,15′-monooxygenase (BCO), an enzyme breaking down carotenes to vitamin A. Phenotype-genotype association studies are needed to confirm this hypothesis.