21.6 Pathology

• Introduction
• Pathology of sexual differentiation conditioned by genetic or hormonal causes
  • True hermaphroditism
  • Pseudohermaphroditism in males
  • Pseudohermaphroditism in females
  • Turner's syndrome
  • Klinefelter's syndrome
• Abnormalities of male genitalia
  • Hypospadia
  • Epispadia
  • Agenesis of the penis / clitoris
  • Bifid penis or clitoris / micropenis
  • Cryptorchidism / ectopia of the testicles
  • Inguinal hernia / hydrocele / cysts
  • Testicular torsion
• Abnormalities of female genitalia
  • Utero-vaginal abnormalities
  • Endometriosis
  • Absent perforation of the hymen
• Tumors arising from the germ cells
  • Germinoma
  • Embryonic carcinoma
  • Teratoma
  • Tumors arising from the yolk sac
  • Choriocarcinoma

Agenesis of the penis / clitoris

Penile or clitoris aplasia is a very rare abnormality. Here the development of the genital tubercle due to an ectoderm-mesenchymal anomaly during the 7th developmental week is involved.

Bifid penis or clitoris / micropenis

This disorder is extremely rare and occurs in both sexes. It is mostly associated with an ecstrophia of the urinary bladder or anomalies in the region of the urinary tract. From an embryologic point of view two genital eminences have been developed.

Cryptorchidism / ectopia of the testicles

Cryptorchidism, a term of Greek origin (κρυπτος = hidden, ορξις = testis), is found in ca. 30% of premature infants and in 4% of full term babies. The testes remain in the abdominal cavity or somewhere on their way to the scrotum – most frequently in the inguinal canal (60% of the cases). One should not confuse the concept of cryptorchidism with a testicular ectopia, in which the testes take on an abnormal location due to a deviant migration. Cryptorchidism can occur unilaterally or bilaterally (20-40% of all cryptorchidisms).

The cause of this disorder remains unknown but it seems to be connected with an insufficient production of androgens (possibly through a change at the level of the hypothalamus-pituitary axis). An undescended testis is normal up till birth, but already during the first year there are histological alterations (frequency of testicular tumors is elevated by 20-40%; there also exists a risk of sterility).

The first treatment step consists in giving gonadotropic hormones (HCG) with a success rate of 20-50% or, if this remains unsuccessful, in a surgical intervention (orchidopexy). Here the testis is surgically brought down into the scrotum.

Fig. 69
Scheme showing the most frequent localizations of a undescended or incompletely descended testis.

Fig. 70
Possible localizations of an ectopic testis