Background: Hyperandrogenism in children is associated with excessive adrenal or gonadal androgens secretion. The most common causes of androgens hypersecretion are PCOS, adrenal tumors, Cushings syndrome, CAH, and gonadal virilizing tumors. Within the last 15 years single case-reports of hyperandrogenism in female patients with congenital porto-systemic shunts were described in literature. The mechanism of such coincidence is unknown but the role of hyperinsulinism, impaired androgens liver metabolism due to escape of some part of hormones via shunt from portal to systemic circulation are mentioned.
Objective and hypotheses: A 12-year old girl with increasing hyperandrogenism was admitted to Endocrinology Clinic. On examination: hirsutism (1314 pts in Ferriman-Gallwey scale), severe acne, clitoromegaly and low-pitched voice were noted. On anamnesis, in this patient congenital liver fibrosis with mild portal hypertension was observed. At the age of 11 she underwent surgery because of pancreas tumor histopathological examination revealed solid pseudopapillary tumor (Gruber-Franz Tumor).
Method: Laboratory tests and imaging.
Results: On laboratory tests we found elevated concentration of testosterone maximum 2402 pg/ml (n<950 pg/ml) and androstenedione maximum 622 ng/dl (n<470 ng/dl), whereas dehydroepiandrosterone sulfate was within normal range. In steroid urinary profile augmented excretion of androgens metabolites was present. In dexamethasone suppression test adrenal androgens and cortisol were fully suppressed but partial testosterone and androstenedione suppression were found. This suggested an ovarian contribution in androgen overproduction. Oral glucose tolerance test revealed hyperinsulinemia (0′-40 uIU/ml, 120′-239 uIU/ml) with impaired glucose tolerance. Serum ammonia concentration was also elevated −120180 μg/dl (normal range 2080 μg/dl). Diagnostic imaging brain and abdominal MRI didnt show any changes. In abdominal angio-CT examination we found porto-systemic shunt persistent umbilical vein connecting portal with femoral vein.
Conclusion: Taking under consideration clinical and diagnostic findings, absence of hormonally active lesion in our opinion hyperandrogenism in this case may be related with congenital porto-systemic shunt, similarly to cases previously described in literature.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology