Endocrine Abstracts

Background: Normal sex development is warranted by a complex and coordinated interaction between mutually antagonistic activating and repressing genetic and hormonal factors that act in a strict spatio-temporal sequence. Deviations from this established pattern can result in heterogenous chromosomal, gonadal or phenotypic congenital abnormalities named disorders of sexual development (DSD). We present a rare case of early testicular regression syndrome.

Case report: A 15 years and 11 months old female adolescent presented in our clinic with primary amenorrhea and delayed puberty. At physical examination she had normal female external genitalia, secondary sex characteristics consistent with the pre-adolescent stage (Tanner B1P2), low stature, dextroscoliosis, subtle cranio-facial dysmorphism and a slight psycho-emotional immaturity. Laboratory studies showed elevated gonadotropins with undetectable levels of estradiol and testosterone and abdominal and pelvic magnetic resonance imaging revealed no uterus or gonads, only the presence of a short lower vaginal tract. Her karyotype was found to be 46, XY and fluorescence in situ hybridization confirmed the presence of the SRY gene. Laparoscopic exploration of the abdomen and pelvis discovered 2 oblong pelvic masses consistent with rudimentary fallopian tubes with fibrous scarring and paramesonephric remnants on the pathology report. She was started on a gradual estrogen replacement therapy to simulate puberty along with psychotherapy. She now has normal stature and a significant improvement in secondary sexual characteristics (Tanner B3P3) and socio-psycho-emotional features at the age of 19 years and 10 months old.

Conclusion: The true prevalence of testicular regression syndrome remains unknown as the phenotype is highly variable depending on when gonadal regression occurs in utero. A thorough comprehension of embryonic sexual development and differentiation is key in accurately evaluating and managing these rare cases of XY DSD. Providing psychological support resources for patients and their families is also an essential point.