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Endocrine Abstracts (2018) 56 EP154 | DOI: 10.1530/endoabs.56.EP154

Faculty of Medicine Cairo University, Cairo, Egypt.


The normal development of the female reproductive tract depends on the interaction between genetic, hormonal and environmental factors for the differentiation of the Müller and Wolff ducts, and the urogenital sinus

Case report: 16-year-old female, single, school student presented to our endocrine department complaining of primary amenorrhea. No history of chronic diseases, excessive exercise,medications, anorexia, clinical hypothyroidism or hyperandrogenism. Family history revealed positive consanguinity. Mother menarche at age 11, her elder sister diagnosed as turner syndrome [45xo] with infantile uterus and both ovaries are not visualized. Physical examination: weight 61kg, height:170 cm BMI: 21.1. Female phenotype, Tanner classification: breasts (4) axillary hair (2), pubic hair (2). Genital examination rudimentary clitoris, unchanged inner and outer labia grooved urethra with elevated edges. Laboratory work up showed follicle-stimulating hormone: 5.35 mIU/ml (N: 0.7–11.1). Luteinizing hormone: 8.1 mIU/ml (N: 0.8–7.6). Pelvi abdominal ultrasonography showing midline solitary pelvic kidney, absent uterus,visible rt ovary measuring 23×15 mm,visible lt ovary measuring 23×22 mm. Genetic evaluation revealed karyotype 46,XX, thus determining the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Type II

Conclusion: Mayer-Rokitansky syndrome generates anxiety and psychological distress with consequences on the patient’s quality of life, thus requiring a multidisciplinary approach

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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