Rare cases of disorders of sex development (DSD) in adolescents with female phenotype.
BACKGROUND
Disorders of sex development (DSD) belong to uncommon pathologies; in addition, there are especially rare forms, such are ovotesticular disorders (OT), Turner syndrome and early malignisation of intraabdominal located gonads in the cases of androgen insensitivity syndrome.


OBJECTIVE
In this article we present four rare cases of DSD in female phenotype adolescents: two cases of ovotesticular DSD with 46,XX and 46,XY karyotypes; one familial case of androgen insensitivity syndrome (AIS) with early malignancy (19-year-old) of intra-abdominally-located testicle in older siblings, and a case of spontaneous menstruation in a patient with Turner syndrome and mosaic karyotype 45,X/47,XXX. Rare cases of DSD are connected with diagnostic and management difficulties and so description of each such case and collection of data in this field is very important from a scientific, as well as a practical, point of view. Determination of prognosis and adequate management of each individual patient are also essential. Study of this issue is especially sensitive in the case of adolescent patients in order to avoid physiological stress, to reduce health risks and to improve quality of life.
Zhordania Institute of Human Reproduction, Tbilisi State University, Georgia. jenarakrist@hotmail.com
Jenara
J
Kristesashvili
Mariam
M
Chipashvili
Teimuraz
T
Jorbenadze
Donald E
DE
Greydanus
D000293:Adolescent; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D023961:Gonadal Dysgenesis, 46,XX / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D042341:Gonadal Hormones / Q000378:metabolism / Q000627:therapeutic use; D006062:Gonadotropins / Q000378:metabolism; D006066:Gonads / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D035583:Rare Diseases; D018239:Seminoma / Q000209:etiology; D019849:Sex Determination Processes; D046468:Sexual Development / Q000235:genetics*; D016896:Treatment Outcome; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D055815:Young Adult
D042341:Gonadal Hormones; D006062:Gonadotropins