Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

Lloyd J. W. Tack*, Saskia van der Straaten*, Stefan Riedl, Alexander Springer, Paul-Martin Holterhus, Nadine C. Hornig, Zofia Kolesinska, Marek Niedziela, Federico Baronio, Antonio Balsamo, Sabine E. Hannema, Anna Nordenstrom, Sukran Poyrazoglu, Fatma F. Darendeliler, Romina Grinspon, Rodolfo Rey, Fahad Aljuraibah, Jillian Bryce, Faisal Ahmed, Rieko Tadokoro-CuccaroIeuan Hughes, Guilherme Guaragna-Filho, Andrea T. Maciel-Guerra, Gil Guerra-Junior, Martine Cools*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Being born small for gestational age (SGA) is frequently associated with unexplained disorders of sex development (nonspecific DSD) in boys. Little is known about their future growth, puberty and testicular function. Our objective is to determine the long-term endocrine outcome of boys born SGA who have a nonspecific DSD.

Boys with a nonspecific DSD born SGA and appropriate for GA (AGA) were retrieved through the International Disorders of Sex Development registry and retrospective data collected, based on a spreadsheet containing 102 items.

Patients and Measurements
In total, 179 boys were included, of which 115 were born SGA and 64 were born AGA. Their growth and pubertal development were compared. Serum LH, FSH, testosterone, AMH and inhibin B levels in infancy and puberty were analysed to assess testicular function.

At 2 years of age, 30% of SGA boys had incomplete or absent catch-up growth. Boys born SGA also had higher LH during minipuberty and lower testosterone in stimulation tests (p = 0.037 and 0.040, respectively), as compared to boys born AGA. No differences were observed in timing or course of puberty or end-pubertal hormone levels.

Almost one out of three SGA boys with a nonspecific DSD experiences insufficient catch-up growth. In addition, our data suggest dysfunction of infantile Leydig cells or altered regulation of the hypothalamic–pituitary–gonadal axis in SGA boys during childhood. Sex steroid production during puberty seems unaffected.
Original languageEnglish
Pages (from-to)165-174
Number of pages10
JournalClinical Endocrinology
Issue number2
Early online date20 Oct 2021
Publication statusPublished - Feb 2022


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