ESPE2016 Poster Presentations Gonads & DSD P2 (59 abstracts)
Identification of an AR Mutation in Klinefelter’s Syndrome during Evaluation for Penoscrotal Hypospadias
Sezer Acar a , Hale Tuhan a , Elçin Bora b , Korcan Demir a , Hüseyin Onay c , Derya Erçal d , Ece Böber a & Ayhan Abaci a
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.
Article tools
Recently viewed
Authors
ESPE Abstracts
© Bioscientifica 2026 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more