Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome

Abstract

Objective: To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Design: Case report Setting: Unit of Endocrinology, Fundación Hospital Alcorcón. Madrid (Spain). Patient: A 17-year-old woman who presented with primary amenorrhea and lack of mammary development. Intervention(s): An endocrine study including pituitary, ovarian, adrenal, and thyroid evaluation was performed. Genetic study was done by karyotype and fluorescence in situ hybridization (FISH) analysis to detect the presence of Y chromosome material. Bone study, intravenous urography, pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated genitourinary and skeletal anomalies. Main Outcome Measure(s): Anatomic, endocrine, and genetic description of the patient. Result(s): The gynecologic examination showed a normal vagina ending in a blind pouch. The endocrine evaluation disclosed gonadotropin levels in the menopausal range and nonautoimmune subclinical primary hypothyroidism. The laparoscopic study revealed a single pelvic kidney and an absence of gonads, fallopian tubes, and uterus. The karyotype was 46,XX; no Y chromosome was found in FISH analysis. Conclusion(s): To our knowledge, this is the first report of gonadal agenesis 46,XX associated with the atypical form of MRKH syndrome. The primary hypothyroidism may be coincidental.