ESPE Abstracts (2016) 86 P-P2-404

Case Report of a Girl with Secondary Amenorrhea Associated with Aurantiasis Cutis

Ralph Deckera,b & Jens Jacobeita

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.

Table 1.
Laboratory findingsUnitsReference range
ß-carotin2230 μg/l (235–1040)
Bilirubin (total)0.4 mg/dl (0.2–1.0)
GOT (AST)26 U/l(15–41)
FSH 7.0 IU/l(2.2–10.1)
LH 4.2 IU/l(1.0–52.2)
Estradiol-17ß 49.4 ng/l(16.1–238,3)
17-OH-Progesterone 0.73 μg/l(0.1–2.2)

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.

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