ISSN: 2169-0111
+44 1478 350008
Department of Medical Biology, Çukurova University, Adana, Turkey
Research Article
Cytogenetic Profiles of a Large Cohort of Patients with Sexual Developmental Disorders; a 22-Year Single-Center Experience
Author(s): Osman Demirhan*
Although Disorder of Sexual Developmental (DSD) is rare, complementary clinical, genetic and hormonal diagnoses are needed for the diagnosis of a baby born with ambiguous genitalia or uncertain whether it is a boy or a girl. This is the largest retrospective cytogenetic study of DSD patients in Turkey. The aim of this study is to determine the frequency and structure of Chromosomal Abnormalities (CAs) seen in patients with the clinical spectrum of Ambiguous Genitalia (AG), Hypogonadism (HG), Intersex (IS), Hypospadias (HS), Testicular Feminization (TF) and Vaginal Hypoplasia (VH) between 1990 and 2012. Chromosome analysis was performed on 117 patients who applied to our laboratory with the complaint of DSD. For this, heparinized peripheral blood samples were cultured and analyzed according to standard cytogenetic methods. Percentage rates of all patients having AG, HG, HS, IS, TF and .. View More»
DOI:
10.35248/2169- 0111.23.12.208