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Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Scopus, Emerging Sources Citation Index
Online ISSN 1827-1650
Pellicano M., Penner I., Connola D., Di Iorio P., Sorrentino V., Pastore S. F., Sparice S., Gargano V., Masucci A., Stella N., Nappi C.
We report the case of a 20-year-old woman with primary amenorrhea, normally developed sexual characteristics, infantile external genitals and absence of vaginal orifice. Blood chemistry studies showed elevated serum levels of gonadotropin, estrogens, testosterone, 17OH-progesterone, prolactin and TSH and low concentrations of FT3 and FT4. Cytogenetic karyotyping and in situ fluorescence hybridization revealed a 46,XX karyotype and the presence of Barr chromatin body. Laparoscopy disclosed absence of a vagina, apparently normal, enlarged tubes, multifolicular ectopic gonads and symmetric bilateral uterine buds. Diagnostic work-up included skeletal radiography, renal ultrasonography, intravenous pyelography, pelvic echography, pelvic phlebography and magnetic resonance imaging studies to demonstrate possible associations between the genitourinary and skeletal anomalies. Based on the clinical and laboratory findings, a diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome was established, associated with the presence of enlarged ectopic polycystic ovaries in the abdominal cavity.