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Rediet Ambachew Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Amare Gulilat Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Tewodros Aberra Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Zewdu Terefework MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia

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Wubalem Bedilu Department of Radiology, St. Paul’s Hospital Millenium Medical College, Addis Ababa, Ethiopia

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Getahun Tarekegn Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Ahmed Reja Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Summary

Mayer–Rokitansky–Kuster–Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries, whereas gonadal dysgenesis is a primary ovarian defect in otherwise normal 46,XX females. An association between these two conditions is extremely rare. We report a 21-year-old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. The karyotype was 46,XX and the hormonal profile revealed hypothyroidism and hypogonadotropic hypogonadism. Pelvic MRI showed class I Mullerian duct anomaly with ovarian dysgenesis. Ultrasound showed bilateral thyroid hypoplasia and brain MRI suggested anterior pituitary hypoplasia. Levothyroxine and hormone replacement therapy were started.

Learning points

  • The simultaneous presentation of 46,XX gonadal dysgenesis, Mayer–Rokitansky–Kuster–Hauser syndrome, hypothyroidism, and pituitary hypoplasia is a Possibility.

  • Extensive evaluation should be made when a patient presents with one or more of these features.

  • The diagnosis imposes a significant psychological burden on patients and adequate counseling should be provided.

  • Hormone replacement therapy remains the only therapeutic option for the development of secondary sexual characteristics and the prevention of osteoporosis.

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