Endocrine Abstracts

Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is defined as aplasia or hypoplasia of the uterus and vagina in female with normal 46,XX karyotype. Isolated congenital absence of the uterus and vagina is classified as MRKHS type 1 (typical form). If it is associated with at least one concomitant congenital malformation that mainly affect the renal and skeletal system, is classified as MRKHS type 2 (atypical form). We report here the cases of MRKH type 2 with inguinal hernia in a child and an adolescent in order to pay attention concomitant malformations for early diagnosis in childhood before the onset of amenorrhea.

Cases: Patient 1: 5-year-old girl was referred to our clinic for the absence of vaginal orifis. She had a history of inguinal hernia repair and operated for atrial and ventricular septal defect in infancy. She had also vesicoureteral reflux. Pelvic ultrasonography and magnetic resonance image (MRI) showed absence of the uterus and vagina. Lumbarization S1 was established as a skeletal anomaly. Patient 2: 15-year-old girl who presented a primary amenorrhea studied with transabdominal and pelvic ultrasonography and pelvic MRI, which demonstrated a complete agenesis of uterus, a functional cyst in the right ovary, and a left pelvic ectopic kidney. She had not a major skeletal anomalies. She underwent bilateral inguinal hernioplasty.

Conclusions: The concomitant malformations contribute to clinical profile heterogeneity of women with MRKHS. Our cases are to show the importance of further investigation in cases of inguinal hernia to diagnose other concomitant anomalies to establish earlier that patients have MRKHS type 2.