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|
|Bilirubin (total)||0.4 mg/dl||(0.21.0)|
|GOT (AST)||26 U/l||(1541)|
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.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology