ESPE Abstracts

Introduction: Clitoral hypertophy can be congenital or acquired, and is usually associated with prenatal and/or postnatal exposure to androgens. Pathophysiological mechanisms responsible for transient hypertophy of the clitoris in female infants born extremely prematurely have not been fully elucidated.

Case report: We present the case of an extremely premature female infant, born at 27⁺⁵ weeks of gestation, with extensive web of skin on the back of the left leg, hypoplastic left labia majora and normal clitoris appearance. Cleft lip/palate or other clinical features characteristic of popliteal pterygium syndrome were absent. At the age of 48 days (corrected gestational age 34+4 weeks), clitoral enlargement was observed. Significantly elevated levels of luteinizing hormone (LH 139 IU/l), follicle-stimulating hormone (FSH >200 IU/l), testosterone (9.3 nmol/l) and to a lesser degree dehydroepiandrosterone sulfate (DHEAS 17.3 umol/l) were detected. 17-hydroxyprogesterone (17OHP) was unremarkable, and anti-Müllerian hormone (AMH) was low, in accordance with normal female karyotype (46,XX). The ovaries and left kidney were not visualized on initial ultrasound exam. No pathogenic genetic vaiants were identified by clinical exome sequencing panel. During following weeks, gradual normalization of gonadotropin, testosterone and DHEAS levels was accompanied by regression of clitoral hypertophy.

Conclusion: Transient clitoral enlargement may appear in extremely premature female infants due to transitory elevated androgens of ovarian and/or adrenal origin, even in the absence of ovarian cyst.