Disorder Cryptorchidism Uterine Aplasia Incomplete Uterine Fusion Vaginal Atresia

Disorder Cryptorchidism Uterine aplasia Incomplete uterine fusion Vaginal atresia Imperforate hymen Hypospadius

Epispadius True hermaphrodite (hermaphrodite = an individual with characteristics of both sexes) Female pseudohermaphrodite Male pseudohermaphrodite

Klinefelter Syndrome Pure gonadal dysgenesis Mixed gonadal dysgenesis

Symptoms Failure of testes to descend (abdominal testes) Abdominal testes must be removed as they are susceptible to malignancies (cancer) Congenital absence of uterus/vagina Bicornuate type (most common) Duplex (double uterus) Unicornuate types (least common) Congenital absence of vagina UG sinus anomaly Urethral opening is located on the ventral surface of the penis, proximal to the tip of the glans Penis may be bent ventrally May be isolated or occur with other anomalies Urethra and penis are open dorsally Ovarian and testicular tissue MUST be present (often combined as an ovotestis) External genitalia are female or ambiguous Genotypic conditions: mosaicism (2+ cell lines from a single zygote), chimerism (single individual from 2 zygotes) Genetic female (has ovaries) Masculine external genitalia Results from exposure to androgen (caused by Congenital Adrenal Hyperplasia or arrhenoblastoma) Genetic male (has testis) Feminized/ambiguous external genitalia Results from insufficient androgen production/utilization (lack of receptors, insensitivity, decreased MIS) Androgen insensitivity syndrome Androgen deficiency  seminiferous tubule dysgenesis, gynecomastia Individuals are tall with long limbs and some mental dullness Individuals have streak gonads and female genitalia and often no secondary sexual characteristics Turner syndrome (45X) Individuals have a testis on one side and an undifferentiated gonad on the other and a uterus External genitalia range from normal female to normal male

Notes 2-3% of testes are undescended by term 15-30% of testes are undescended by pre-term 1/4000 – 1/5000 typically includes uterus and vagina Occurs in 2-3% of the population 10% isolated 90% with uterine aplasia 0.3% of the population 2-4.4/10000 births

5 times more common in males Usually associated with bladder extrophy (rarel occurs as isolated condition) 46XX (70%), 46XY, 46XX/46XY (20%) VERY rare condition

46XX

46XY

47XXY 1/500-1/1000 births 45X (most common), 46XX, 46XY VERY rare