ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2022) 19 6.4 | DOI: 10.1530/ey.19.6.4


Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.

Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growth, pubertal development, and gonadal functions (serum LH, FSH, testosterone, AMH, and inhibin B levels) at minipuberty and puberty.

There is a significant association between being born small for gestational age (SGA) and having hypospadias or a more complex phenotype of DSD. Vice versa, boys with non-specific DSD were found to have low birth weight. Furthermore, there is some evidence that infants born with SGA have an increased risk of developing metabolic syndrome, lack of catch-up growth, and experiencing early puberty.

The results of this study reveal that boys with non-specific DSD who were born SGA are at higher risk of poor long-term growth outcomes than SGA boys without non-specific DSD. These boys may also have an altered gonadal function in early postnatal life although pubertal hormone levels seem unaffected. Fertility outcomes of SGA boys with non-specific DSD need further investigation.

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