Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing

Objective

It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment.

Methods

The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up.

Results

A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia.

Conclusions

Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing.