Pediatric endocrinology

Exploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns

Horm Res PaediatrPublished Retrospective cohort study

Authors' conclusion

A high prevalence of SGA was observed among individuals with sex chromosome DSD, consistent with the literature, whereas a lower prevalence was found among those with 46,XX DSD, as expected in the Latin American population. The frequency of SGA in the 46,XY DSD group reinforces the association between SGA and DSD in the 46,XY DSD, particularly in patients without a clear molecular diagnosis and without specific disorders of undervirilization. Factors involved in early embryonic growth, development, and gonadal differentiation may mediate the association between being born SGA and DSD in humans. Further studies are needed to clarify the etiological diagnosis.

Study context

Population
Patients with differences in sexual development (DSD) evaluated at a single tertiary pediatric center
Participants
642 patients
Exposure
Small for gestational age (SGA) prevalence by karyotype group: chromosomal DSD vs 46,XX DSD vs 46,XY DSD
  • Chromosomal DSDn = 202
  • 46,XX DSDn = 218
  • 46,XY DSDn = 222
Outcome
Prevalence of SGA (from gestational age, birth weight and birth length)
Methodological detailssingle-centre, tertiary pediatric center
  • Single-centre
  • Tertiary pediatric center

Main finding

As reported in the abstract

SGA prevalence

Observational data: associations, not effects.

Further findings

Molecular diagnosis achieved in 46,XY DSD
35%
SGA more frequent in 46,XY DSD without molecular diagnosis and without gonadal dysgenesis

Original publication

Exploring the Association between Prenatal Growth and Differences in Sexual Development in Newborns. Horm Res Paediatr. Published 10 October 2025. doi:10.1159/000548803

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