A Case of Mayer-Rokitansky-Kuster-Hayser Syndrome with Absence of the Right Thumb

Abstract

A 14-year-old feminine adolescent, presented with congenital absence of right thumb, scoliosis, severe anemia, primary amenorrhea without secondary sexual characteristics, except for normally developed breasts. In the genital area, there was a pair of ill developed labia majora fused at upper end with a whirling pattern containing inside the urethral opening. The lower end of genitalia had loose skin folds containing adequate amounts of rugae with a raphe, mimicking the texture of scrotal skin. There was no vaginal orifice. Diagnostic work-up included routine hematological studies, skeletal radiography, renal ultrasonography, and renal scan to demonstrate possible association between the congenital genitourinary and skeletal anomalies. Ultrasound imaging studies confirmed that she had structures close to uterus with hematometra, but vagina and ovary were not found. Sonologically, the left kidney could not be visualized. Renal scan confirmed agenesis of the left kidney and hypoplastic, parenchymally insufficient, right kidney. Cytogenetic karyotyping revealed a 46, XX karyotyping and the presence of Barr chromatin body. Based on the clinical examination and investigations, a diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome was established with associated limb and skeletal deformities.

Keywords

• Genitalia
• Sex Determination
• Imaging studies
• Mayer Rokitansky-Kuster-Hauser syndrome