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Birth Weight in Different Etiologies of Disorders of Sex Development

Sukran Poyrazoglu1, Feyza Darendeliler1, S Faisal Ahmed2

  • 1Istanbul University, Istanbul Faculty of Medicine, 34093 Istanbul, Turkey.

The Journal of Clinical Endocrinology and Metabolism
|March 31, 2017
PubMed

Insights

Prenatal androgen action does not explain birth weight differences between sexes. Specific 46,XY disorders of sex development (DSD) are linked to fetal growth restriction and being small for gestational age (SGA).

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Boys are typically heavier than girls at birth, a difference potentially linked to prenatal androgen exposure.
  • The exact causes of this birth weight (BW) dimorphism remain unclear.
  • This study investigates the role of androgen action in fetal growth and BW differences.

Purpose of the Study:

  • To determine the birth weight (BW) of children with disorders of sex development (DSD) across various etiologies.
  • To assess the impact of androgen action on BW in these children.
  • To explore potential links between DSD, fetal growth, and androgen pathways.

Main Methods:

  • Utilized data from the International Disorders of Sex Development (I-DSD) Registry.
  • Collected information on diagnosis, BW, gestational age, karyotype, and comorbidities.
  • Calculated BW standard deviation scores and categorized cases by DSD etiology, including disorders of gonadal development, androgen synthesis, and androgen action.

Main Results:

  • Analyzed 533 cases (400 46,XY; 133 46,XX), with 15% born small for gestational age (SGA).
  • SGA frequency was significantly higher in 46,XY (17.8%) compared to 46,XX (6.7%) individuals.
  • Mean BW standard deviation scores were similar in cases with androgen excess/deficiency and normal children; however, SGA was more common in androgen receptor (AR) mutation-negative and nonspecific undermasculinization groups.

Conclusions:

  • Fetal androgen action alone is unlikely to account for the observed birth weight dimorphism between sexes.
  • 46,XY DSDs associated with nonspecific undermasculinization show a higher incidence of fetal growth restriction and SGA.
  • These findings highlight the complex interplay of genetics and fetal development in determining birth weight and sex development outcomes.
Abstract

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