5.3. A mother brings in her 15-year-old daughter because she has never started
her periods. She otherwise is healthy and takes no medications. Her past medical history is unremarkable except for inguinal hernia repair as an infant. Family history is unremarkable. She is at the 75th percentile for height and weight,
has tanner stage IV breast development, and has no pubic or axillary hair development. Her anogenital examination reveals a short, pocket-like vaginal opening. Which of the following is consistent with her likely diagnosis?
A. 46, XY genotype with male phenotype
B. Bilateral ovaries
C. Normal or elevated testosterone level
D. Delayed puberty
E. Abnormal developmental milestones
5.4. You examine a full-term 3780-g newborn in the nursery and notice that he
has unilateral cryptorchidism and a microphallus with hypospadias. You suspect mixed gonadal dysgenesis. Which of the following is most associated
with this condition?
A. Normal spermatogenesis
B. Increased risk for germ cell tumor
C. Abnormal gross motor development
D. Umbilical hernia development
E. Normal seminiferous tubules
ANS
5.3 C. Testicular feminization results from decreased androgen binding to target
tissues or androgen insensitivity, the latter being the most common form of
male pseudohermaphroditism. Patients have functional testicular tissue, with
normal or high testosterone levels. They also have 46,XY karyotypes, yet
appear as phenotypically normal females with short or atretic vaginas. Maintaining female gender assignment is appropriate, and vaginoplasty is frequently
needed after puberty. Puberty typically is not delayed, and linear growth and
developmental milestones are usually normal.
5.4 B. A testis typically has immature seminiferous tubules, spermatogenesis is
often impaired, and a higher risk for testicular cancer is noted in mixed gonadal
dysgenesis. As in other conditions, undescended testes can be associated with
inguinal herniation. Although a history of sexual ambiguity in mixed gonadal
dysgenesis may impact psychosocial development to some degree, abnormal
neuromuscular development is not a typical finding