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Endocrine Abstracts (2018) 56 P896 | DOI: 10.1530/endoabs.56.P896

1Department of Endocrinology, Elias University Hospital Bucharest, Bucharest, Romania; 2Department of Endocrinology ‘Carol Davila’ University of Medicine and Pharmacy, Bucharest, Romania; 3Department of Gynecology, Elias University Hospital, Bucharest, Romania.


Introduction: The term disorder of sexual development (DSD) refers to a congenital condition characterised by a discordance in the development of chromosomal, gonadal and anatomical sex. The inborn errors of metabolism in these disorders due to genetic mutations lead to anomalous genitalia.

Case report: A 16-year-old girl without significant family history was referred to our department for primary amenorrhea. The physical examination revealed: height of 167.5 cm, weight of 68 kg (BMI=23.8 kg/m2), Tanner stage 3 for breast development and 5 for pubic hair growth. Inspection of external genitalia showed normal appearance of labia majora with labia minora attached on the ventral side of the clitoris and no visible urethral opening. In addition, the patient had clitoromegaly-microphallus-like appearance and hirsutism. No inguinal masses were palpable. The laboratory findings showed basal plasma cortisol: 19 μg/dl, ACTH: 49.96 pg/ml, androstenedione: 2.65 ng/ml, DHEA-S: 191.9 μg/dl, 17-OH Progesterone: 2.38 ng/ml, FSH: 91.45 mIU/ml, LH: 15.18 mIU/ml, estradiol: 13.6 pg/ml, testosterone: 234.5 ng/dl, dihydrotestosterone: 120 pg/ml, inhibin B: <10 pg/ml, anti-Müellerian hormone: 0.24 ng/ml. The karyotype was performed, revealing a 46 XY male karyotype. An echogenic mass of 28/13 mm on the right inguinal side and the absence of uterus, ovaries and fallopian tubes was identified on abdominal ultrasound. The MRI scan confirmed two masses resembling testes located in both inguinal canals and associating yolk sack, outline of cavernous bodies with no external opening in the pelvic region and on the posterior side of the bladder a seminal vesicle-like mass. After careful expert evaluation performed by a multidisciplinary team, gender assignment decision as female was made, taking into account the patient’s wish. In this context, we recommended gonadectomy due to the malignant potential of the abdominal testis-like masses. After surgery, she will receive hormone replacement therapy with estrogens to maintain secondary sexual characteristics.

Conclusions: A comprehensive multidisciplinary team is essential in order to provide the best of care for patient with DSD. Prioritizing patients wish coupled with the specialists’ consensus regarding management is probably the best way to treat this medical entity.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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