title: Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum.
abstract: The most complicated group of sexual differentiation disorders is that of gonadal development. Disorders of gonadal development form a wide clinical, cytogenetic and histopathological spectrum. There are still some unsolved difficulties of diagnosis, development of malignancy and the sex rearing of these patients. We reviewed 23 cases of gonadal developmental disorders among 169 patients with ambiguous genitalia or delayed puberty. Among 169 patients, 87 patients were 46,XY disorders of sex development (DSD), 59 patients were 46,XX DSD without disorders of gonadal development and the remaining 23 patients had disorders of gonadal development. Nine of these 23 patients were diagnosed as 46,XY gonadal dysgenesis, 7 patients had ovotesticular DSD, 5 patients had 45,X/46,XY mixed gonadal dysgenesis. Fourteen patients with disorders of gonadal development had genital ambiguity, 5 patients had a female genital phenotype with a palpable gonad and/or delayed puberty. Four patients had the male genital phenotype. Disorder of gonadal development is a very important clinical problem with different aspects of diagnosis, treatment, rearing sex and prophylaxis. Each patient should be evaluated individually employing a multidiciplinary approach.
authors.affiliation: Ankara University, School of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey. zeynepsklr@hotmail.com
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Siklar
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
authors.forename: Pelin
authors.initials: P
authors.lastname: Adiyaman
authors.forename: Mustafa
authors.initials: M
authors.lastname: Salih
authors.forename: Ajlan
authors.initials: A
authors.lastname: Tükün
authors.forename: Ergun
authors.initials: E
authors.lastname: Cetinkaya
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Olcay
authors.initials: O
authors.lastname: Evliyaoğlu
authors.forename: Ayça T
authors.initials: AT
authors.lastname: Ergur
authors.forename: Gönül
authors.initials: G
authors.lastname: Oçal
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics* / Q000473:pathology; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping / Q000379:methods; D008297:Male; D010053:Ovary / Q000473:pathology*; D011379:Prognosis; D012732:Sex Determination Analysis / Q000379:methods; D013737:Testis / Q000473:pathology*