Endocrine Abstracts

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

Case report: 16-year-old female, single, school student presented to our endocrine department complaining of delayed puberty. The patient was delivered by normal vaginal delivery, no history of anosmia or hearing defects There is no history of headache or blurring of vision or other neurological symptoms No history of chronic diseases, excessive exercise, medications, anorexia, clinical hypothyroidism or hyperandrogenism Family history revealed positive consanguinity Physical examination: Weight: 60 kg Height: 172 cm, BMI: 20 No facial dimorphism, no features suggestive of Turner syndrome Female phenotype, Tanner classification: breasts (3) axillary hair (2), pubic hair (2). Normal external genitalia Laboratory work up showed follicle-stimulating hormone: 98 mIU/ml (N: 0.7-11.1) Luteinizing hormone: 26 mIU/ml (N: 0.8-7.6), Estradiol 10 pg/ml (12.5-166), prolactin 4.4 ng/ml pelvi -abdominal ultrasonography, MRI pelvis : Infantile hypo plastic uterus (body 20 mm, cervix 12 mm) Non visualized both ovaries Normal female karyotyping46, XX Hormonal substitution by estrogen and progesterone was then undertaken.

Conclusion: The Mayer-Rokitansky-Kuster-Hauser Syndrome is a specific type of mullerian duct malformation characterized by congenital absence or hypoplasia of uterus and upper two thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare, hormone substitution therapy remains the only therapeutic option, to trigger the development of secondary sexual characters and prevent osteoporosis.