Affiliation:
1. SAĞLIK BİLİMLERİ ÜNİVERSİTESİ SULTAN ABDÜLHAMİD EĞİTİM VE ARAŞTIRMA HASTANESİ ENDOKRİNOLOJİ VE METABOLİZMA HASTALIKLARI KLİNİĞİ
2. UNIVERSITY OF HEALTH SCIENCES, İSTANBUL ÜMRANİYE HEALTH RESEARCH CENTER, DEPARTMENT OF INTERNAL MEDICINE, DEPARTMENT OF MEDICAL GENETICS
Abstract
Sex reversal syndromes can be summarized as an incompatibility of chromosomal sex and gonadal characteristics. A very rare syndrome. 46 XX testicular disorder was first described by De La Chapelle in 1964 in 46 XX karyotype male individuals. Generally, patients whose phenotype is male apply to the health center with infertility, impotence, loss of libido, or gynecomastia. Translating the part of the Y chromosome, including the SRY (sex-determining region Y) gene, to the X chromosome during paternal meiosis is responsible for etiopathogenesis.
In our case, a 38-year-old male patient applied to our outpatient clinic complaining of enlargement in both breasts. His beard-mustache and body hair distribution was expected, he had bilateral grade 2 gynecomastia, his penis length was 7 cm, and his testicles were small and palpable in the scrotum. Laboratory values were compatible with hypogonadotropic hypogonadism, and in the sperm analysis, azoospermia was detected. Karyotype analysis was 46 XX, SRY was also studied with the FISH (Fluorescence in Situ Hybridization) technique. The patient was diagnosed with 46 XX Testicular Disorder (de la Chapelle Syndrome), and testosterone replacement therapy was started.
We aimed to present the diagnosis and management of De La Chapelle Syndrome in our case.
Publisher
Dahiliye uzmanlari dernegi (DAHUDER)
Cited by
1 articles.
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