A second term, ambiguous genitalia, describes genitalia that do not appear clearly male or female. Abnormalities may include
TABLE 3-1. Embryonic Urogenital Structures and Their Adult Homologues
Uteroovarian and round ligaments Epoophoron, paroophoron Gartner duct
Uterus, fallopian tubes, upper vagina Bladder, urethra
Seminiferous tubules, Sertoli cells Gubernaculum testis
Efferent ductules, paradidymis Epididymis, ductus deferens,
Prostatic utricle, appendix of testis Bladder, urethra
Floor of penile urethra
TABLE 3-2. Disorders of Sex Development (DSD) Classification 45,X Turnerd 47,xXY Klinefelterd 45,X/46,XY Mixed gonadal dysgenesis 46,XX/46,XY Ovotesticular DSD 46,XY DSD 46,XX DSD aAnd syndrome variants.
AMH = antimullerian hormone; hCG = human chorionic gonadotropin; LH = luteinizing hormone.
Adapted with permission from Hughes lA, Houk C, Ahmed SF, et al: Consensus statement on management of intersex disorders. j Pediatr Urol 2:148,l2006.
hypospadias, undescended testes, micropenis or enlarged clitoris, labial fusion, and labial mass.
Last, ovotesticular deines states characterized by ovarian and testicular tissue in the same individual. It was formerly termed true hermaphroditism. In these cases, diferent types of gonads can be paired. he types of gonads that may be paired include a normal testis, a normal ovary, a streak gonad, dysgenetic testis, or an ovotestis. In the latter, both ovarian and testicular elements are combined within the same gonad. With ovotesticular DSDs, the internal ductal system structure depends on the ipsilateral gonad and its degree of determination. Speciically, the amount of AMH and testosterone determines the degree to which the internal ductal system is masculinized or feminized. Extenal genitalia are usually ambiguous and undermasculinized due to inadequate testosterone.
• Sex Chromosome Disorders of Sex
Sex chromosome disorders of sexual development typically arise from an abnormal number of sex chromosomes. Of these,
Turner and linefelter syndromes are most frequently encoun tered (Nielsen, 1990).
Turner syndrome is caused by de novo loss or severe struc tural abnormality of one X chromosome in a phenotypic female. Most afected fetuses are spontaneously aborted. How ever, in girls with Turner syndrome who survive, phenotype varies widely, bur nearly all afected patients have short stat ure. Associated problems include cardiac anomalies (especially coarctation of the aorta), renal anomalies, hearing impairment, otitis media and mastoiditis, and an increased incidence of hypertension, achlorhydria, diabetes mellirus, and Hashimoto thyroiditis. It is the most common form of gonadal dysgenesis that leads to primary ovarian failure. In these cases, the uterus and vagina are normal and capable of responding to exogenous hormones (Matthews, 2017).
Another sex chromosome disorder is Klineelter syndrome (47,Y). hese individuals tend to be tall, undervirilized males with gynecomastia and small, firm testes. They have sig nificantly reduced fertility from hypogonadism due to gradual testicular cell failure. These men are at increased risk for germ cell rumors, osteoporosis, hypothyroidism, diabetes mellirus, breast cancer, cardiovascular abnormalities, and cognitive and psychosocial problems (Aksglaede, 2013; Calogero, 2017).