ESPE Abstracts (2016) 86 P-P2-392

Identification of an AR Mutation in Klinefelter's Syndrome during Evaluation for Penoscrotal Hypospadias

Sezer Acara, Hale Tuhana, Elçin Borab, Korcan Demira, Hüseyin Onay c, Derya Erçald, Ece Böbera & Ayhan Abacia


aDokuz Eylul University Faculty of Medicine, Department of Pediatric Endocrinology, Izmir, Turkey; bDokuz Eylul University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey; cEge University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey; dDokuz Eylul University Faculty of Medicine, Department of Pediatric Genetics, Izmir, Turkey


Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.

Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.

Method: The patient was born from a healthy 23-year-old mother after in-vitro fertilization. Prenatal screening tests were normal, no chronic illness present and no drug used. Parents were no relatives. Thirty three-year-old father had subclinical hypothyroidism and azoospermia. Physical examination of the case revealed a height of 82 cm (S.D. score 1.50), weight 16.2 kg (S.D. score 3.4), penoscrotal hypospadias, and ventral chordee abnormality with bilateral normal testes (2/2 ml).

Results: Laboratory studies showed normal biochemistry, follicle stimulating hormone 1.37 mIU/ml (normal range, 0.3–4.6 mIU/ml), luteinizing hormone <0.2 mIU/ml (normal range, 0.04–0.42 mIU/ml), total testosterone <0.1 ng/ml (normal range <0.2 ng/ml). Pelvic ultrasonography revealed no ovarian and uterine tissue. Following human chorionic gonadotropin administration, total testosterone increased to 1.32 ng/ml indicating normal androgen synthesis. Chromosomal analysis revealed 47,XXY karyotype. Further genetic investigation disclosed a known missense mutation in AR (p.p392S, c.1174C>T). Results of genetic analyses of the parents are pending.

Conclusion: Although KS is suggested to be in the differential diagnosis of penoscrotal abnormalities, mutations in genes involved in androgen synthesis or responsiveness should also be investigated.

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