TY - JOUR
T1 - Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development
AU - Tack, Lloyd J. W.
AU - van der Straaten, Saskia
AU - Riedl, Stefan
AU - Springer, Alexander
AU - Holterhus, Paul-Martin
AU - Hornig, Nadine C.
AU - Kolesinska, Zofia
AU - Niedziela, Marek
AU - Baronio, Federico
AU - Balsamo, Antonio
AU - Hannema, Sabine E.
AU - Nordenström, Anna
AU - Poyrazoglu, Sukran
AU - Darendeliler, Fatma F.
AU - Grinspon, Romina
AU - Rey, Rodolfo
AU - Aljuraibah, Fahad
AU - Bryce, Jillian
AU - Ahmed, Faisal
AU - Tadokoro-Cuccaro, Rieko
AU - Hughes, Ieuan
AU - Guaragna-Filho, Guilherme
AU - Maciel-Guerra, Andrea T.
AU - Guerra-Junior, Gil
AU - Cools, Martine
N1 - Funding Information: This study would not be possible without the children and the parents of the children whose data have been included in the I-DSD/I-CAH registry. We would like to acknowledge the support of all reference centres that participate in the European Reference Network for Rare Endocrine Conditions (Endo-ERN: endo-ern. eu/about/reference-centres/). The I-DSD registry was developed with support from the UK MRC (G1100236), EUFP7 (201444) and the European Society for Paediatric Endocrinology (ESPE). Lloyd J. W. Tack is supported by an ESPE research fellowship grant from ESPE granted by Novo Nordisk, research grants from the Belgian Pediatric Society, and the Belgian Society for Pediatric Endocrinology (BESPEED) and Diabetology. Martine Cools is supported by an FWO Senior Clinical Investigator grant. Funding Information: This study would not be possible without the children and the parents of the children whose data have been included in the I‐DSD/I‐CAH registry. We would like to acknowledge the support of all reference centres that participate in the European Reference Network for Rare Endocrine Conditions (Endo‐ERN: endo‐ern. eu/about/reference‐centres/). The I‐DSD registry was developed with support from the UK MRC (G1100236), EUFP7 (201444) and the European Society for Paediatric Endocrinology (ESPE). Lloyd J. W. Tack is supported by an ESPE research fellowship grant from ESPE granted by Novo Nordisk, research grants from the Belgian Pediatric Society, and the Belgian Society for Pediatric Endocrinology (BESPEED) and Diabetology. Martine Cools is supported by an FWO Senior Clinical Investigator grant. Publisher Copyright: © 2021 John Wiley & Sons Ltd.
PY - 2022/2
Y1 - 2022/2
N2 - Objective: 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. Design: 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. Results: 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. Conclusions: 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.
AB - Objective: 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. Design: 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. Results: 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. Conclusions: 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.
KW - disorders of sex development
KW - growth and development
KW - hypospadias
KW - puberty
KW - small for gestational age
UR - http://www.scopus.com/inward/record.url?scp=85117289996&partnerID=8YFLogxK
U2 - https://doi.org/10.1111/cen.14614
DO - https://doi.org/10.1111/cen.14614
M3 - Article
C2 - 34668586
SN - 0300-0664
VL - 96
SP - 165
EP - 174
JO - Clinical endocrinology
JF - Clinical endocrinology
IS - 2
ER -