Dawaa Reference

chronic

Congenital anomaly of the genital system (disorder of sex development)

Treatment options, dosing, cautions and Egyptian brands from the shipped Dawaa Reference card.

Evidence status

Checked against the sources named below

Sources3 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 against1 document
  • No dose - referral pathway, no medicine given in primary care

Verified date2026-08

Presentation reference

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

SourceStatPearls "Ambiguous Genitalia and Disorders of Sexual Differentiation" - disease-level clinical article

Presentation findings are traced to the source above.

1

NO DRUG THERAPY IN PRIMARY CARE (RECOGNITION & REFERRAL)

1st line
Adult dose and duration

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

Paediatric dose

Children follow the same pathway: recognise and refer. No primary-care medicine is implied.

Dose 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.

Cautions
  • 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.