[Endocrine loading tests in familial testicular feminization]

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Testicular feminisation (TF) is a rare disorder of sex development.
• It is characterized by XY karyotype with impaired androgen receptor function.
• X-linked recessive inheritance is a known pattern for some TF cases.

Observation:

• Describes two siblings with testicular feminisation.
• Patients presented with 46 XY karyotypes and female external genitalia.
• Rudimentary vaginal stump, absent uterus and fallopian tubes were noted.

Findings:

• Histological examination of testes located in the labia majora.
• Hormone evaluations, including choriogonin and testosterone loading tests.
• Demonstrated complete androgen insensitivity in both cases.

Implications:

• Highlights the importance of genetic and hormonal evaluation in disorders of sex development.
• Contributes to understanding the clinical spectrum of complete androgen insensitivity syndrome.
• Emphasizes the role of X-linked recessive inheritance in familial cases of TF.