A rare disorder of sex development; de la chapelle syndrome

Authors : Mustafa Can ŞENOYMAK, İsmail ENGİN, Nuriye Hale ERBATUR, Sezin CANBEK, Ferhat DENİZ, Arif YÖNEM

Pages : 72-75

Doi:10.56016/dahudermj.1216031

View : 18 | Download : 10

Publication Date : 2023-04-29

Article Type : Other Papers

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 insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(Fluorescence in Situ Hybridization); technique. The patient was diagnosed with 46 XX Testicular Disorder insert ignore into journalissuearticles values(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.
Keywords : DİSORDER OF SEX DEVELOPMENT, GYNECOMASTIA, 46 XX MALE