# Congenital anomaly of the genital system (disorder of sex development) - Category: chronic - Review status: reviewed (every claim checked against a document named on this page) - Sources: Ambiguous Genitalia and Disorders of Sexual Differentiation - StatPearls - NCBI Bookshelf (NBK557435) - https://www.ncbi.nlm.nih.gov/books/NBK557435/ · ICPC-3 (WONCA International Classification of Primary Care, 3rd edition) class GD55 - condition scope only, no dose · No dose - referral pathway, no medicine given in primary care - Verified date: 2026-08 ## Verified against - No dose - referral pathway, no medicine given in primary care ## Treatment metadata - No drug therapy in primary care (Recognition & Referral) ## Complete treatment card ```text CONGENITAL ANOMALY OF THE GENITAL SYSTEM (DISORDER OF SEX DEVELOPMENT) Sources: Ambiguous Genitalia and Disorders of Sexual Differentiation - StatPearls - NCBI Bookshelf (NBK557435) - https://www.ncbi.nlm.nih.gov/books/NBK557435/ · ICPC-3 (WONCA International Classification of Primary Care, 3rd edition) class GD55 - condition scope only, no dose · No dose - referral pathway, no medicine given in primary care Review status: REVIEWED against the source listed above (2026-08) IS IT THIS? - reference only, to read alongside your own examination SYMPTOMS - what the patient reports (8) - Ask about androgens the mother took in this pregnancy, danazol among them - Ask whether the mother herself became virilised while pregnant - That maternal change can come from placental aromatase deficiency or a luteoma of pregnancy - Ask about hormones taken for assisted conception, about the pill, and about soy products in pregnancy - Family history matters: urological abnormality, early puberty, absent periods, infertility, newborn deaths [absent periods · infertility] - Parents who are related raise the chance of recessive causes such as congenital adrenal hyperplasia - Earlier newborn deaths in the family are themselves a clue to adrenal hyperplasia - A sister who never menstruated and has an XY karyotype points to androgen insensitivity SIGNS - what you find (12) - Both testes impalpable, or one impalpable with severe hypospadias, means a disorder of sex development until disproved - That holds even when the genitals do not look ambiguous at a glance - Where hypospadias and undescended testis occur together, 17 to 50 in 100 prove to have such a disorder - Examine in a warm room, lying flat, hips out in frog-leg position with the legs quite free - Trace an undescended testis along the inguinal canal, superficial pouch and upper scrotum, rarely perineum or thigh - Note the size of the phallus, how many openings there are on the perineum, and any gonad in labial or groin folds - Stretched penile length at term runs 2.8 to 4.2 cm, varying with gestation and race - A small phallus on its own is not a marker of a disorder of sex development - Typical findings: neither testis palpable, hypospadias on scrotum or perineum, hypospadias with no palpable gonad - Clitoral length at term is 3.3 to 6.5 mm; over 9 mm counts as clitoromegaly - Also fused labial folds, groin masses, and a single urogenital opening - A uterus can be felt on rectal examination as a cord-like structure in the front midline TESTS (12) - Karyotype first, usually from white cells, sorting cases into 46XX, 46XY and mixed chromosome groups - FISH for the SRY gene, the master switch of male development - SRY missing in a 46XY child means deletion, giving anything from ambiguous genitals to full sex reversal - Chase adrenal hyperplasia first: a late diagnosis brings salt loss, serious illness and death - Measure 17-hydroxyprogesterone in every newborn with atypical genitals and no groin swelling - DHEA, 17-hydroxypregnenolone and 11-deoxycortisol identify the other enzyme blocks - Also testosterone after stimulation, and gonadotrophin levels - Ultrasound and MRI map the anatomy and show gonads, uterus and vagina; vaginoscopy shows the vagina itself - In a 46XX child, a raised 17-hydroxyprogesterone points to adrenal hyperplasia masculinising a female fetus - 21-alpha-hydroxylase deficiency is the usual block, but three others must be considered - Aromatase deficiency shows a high FSH with estradiol undetectable - Anti-Mullerian hormone marks testicular tissue; a low level suggests dysgenesis or a vanished testis IF NOT THIS - what else fits (6) - The suspicion usually starts from looking at the outside of the genital area - A cloaca, a urogenital sinus, or a fistula between rectum and vagina - Congenital duplications, caudal duplication among them - Undescended testis, hypospadias or micropenis copy it, but their karyotype and genitals agree - Smith-Lemli-Opitz: ambiguous genitals with a small head, low-set backward-rotated ears, and fused second and third toes - That syndrome also shows a short broad neck, widely set nipples, and absent iris Source StatPearls "Ambiguous Genitalia and Disorders of Sexual Differentiation" - disease-level clinical article Status traced to the source above 1. NO DRUG THERAPY IN PRIMARY CARE (RECOGNITION & REFERRAL)[1st line] Adult Congenital genital anomalies including disorders of sex development; the GP's role is recognition at birth or in childhood and urgent referral to paediatric endocrinology/urology, not prescribing, and sex assignment should never be rushed. - Refer Peds Children follow the same pathway: recognise and refer. No primary-care medicine is implied. Source No dose - referral pathway, no medicine given in primary care Why Congenital genital anomalies including disorders of sex development; the GP's role is recognition at birth or in childhood and urgent referral to paediatric endocrinology/urology, not prescribing, and sex assignment should never be rushed. Caution Rare in Egyptian primary care. No medicine is prescribed for this in primary care - this entry is for recognition and referral. Anything given is decided by the service it is referred to. RED FLAG - Ambiguous genitalia noted at birth, virilisation in a phenotypic female infant, or non-palpable testes. Prices are indicative (dataset snapshot 2026-06); verify with the pharmacy. ``` --- Dawaa Reference is a reference for prescribers, not a medical device, and does not replace clinical judgement. [Privacy policy](/privacy)