Differences of sexual development - a portuguese single-center case series of the last 24 years

Ines Rua; Joana Serra-Caetano; Isabel Dinis; Alice Mirante; Rita Cardoso

doi:10.1530/endoabs.110.EP1363

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Endocrine Abstracts (2025) 110 EP1363 | DOI: 10.1530/endoabs.110.EP1363

ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)

Differences of sexual development – a portuguese single-center case series of the last 24 years

Inês Rua ¹ , Joana Serra-Caetano ¹ , Isabel Dinis ¹ , Alice Mirante ¹ & Rita Cardoso ¹

Author affiliations

¹Paediatric Endocrinology, Diabetes and Growth Unit, Paediatric Department, Paediatric Hospital, Coimbra Local Health Unit, Coimbra, Portugal

JOINT2290

Introduction: Differences of Sexual Development (DSD) include a group of congenital disorders associated with atypical development of the chromosomal, gonadal or phenotypic sex. The most frequent clinical manifestations are atypical genitalia at birth or postnatal virilization, delayed/absent puberty, primary amenorrhea and infertility.

Aim: To characterize DSD patients followed in our center in Portugal.

Methods: Paediatric patients diagnosed with a DSD and followed in our paediatric endocrinology unit in the last 24 years (2000-2024). Sex chromosome’ DSD were included.

Results: We identified 206 patients, 54% male (assigned at birth) and with a median age at first appointment of 6.5 years (IQR 10.2). In 31% (n = 64) the diagnosis was prenatal. The most frequent clinical manifestations were atypical genitalia (28.2%, n = 58), including micropenis, cryptorchidism (uni or bilateral), hypospadias, clitoromegaly and posterior fusion of the labia; followed by short stature (19,4%, n = 40), neurodevelopment disorder (17%, n = 35) and delayed puberty (5,8%, n = 12). Associated malformations were found in 24.7% (n = 51) patients: cardiac in 13% (n = 27), of the urinary tract in 4.3% (n = 9), microcephaly/micrognathia in 3.4% (n = 7) and orthopaedic in 2,4% (n = 5). A karyotype was performed in 87% of the cases (n = 180) and a molecular study was carried out in 23% (n = 48). In terms of classification, 66% (n = 136) belonged to sex chromosome’ DSD group, 13.1% (n = 27) to XY DSD, 12.1% (n = 25) to the XX DSD, 4.4% (n = 9) had gonadal development disorders, 3.9% (n = 8) isolated hypospadias and 0.5% (n = 1) persistent Mullerian duct syndrome. Of the 206 patients, 116 (56.3%) underwent medical treatment: 32.5% (n = 67) puberty induction, 20.3% (n = 42) somatotropin, 3.9% (n = 8) LHRH analogue and 10.2% (n = 21) glyco/mineralocorticoid replacement. 17% (n = 35) underwent surgical treatment.

Conclusion: DSD are rare conditions, associated with differences in internal and/or external genitalia. Due to its complexity, these patients must be followed in multidisciplinary and specialized teams, throughout their lives.