Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study
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Endocrine outcome and seminal parameters in young adult men born with hypospadias : A cross-sectional cohort study. / Tack, Lloyd J. W.; Spinoit, Anne Françoise; Hoebeke, Piet; Riedl, Stefan; Springer, Alexander; Tonnhofer, Ursula; Hiess, Manuela; Weninger, Julia; Mahmoud, Ahmed; Tilleman, Kelly; Van Laecke, Erik; Juul, Anders; Albrethsen, Jakob; De Baere, Elfride; Van De Velde, Julie; Verdin, Hannah; Cools, Martine.
I: EBioMedicine, Bind 81, 104119, 2022.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Endocrine outcome and seminal parameters in young adult men born with hypospadias
T2 - A cross-sectional cohort study
AU - Tack, Lloyd J. W.
AU - Spinoit, Anne Françoise
AU - Hoebeke, Piet
AU - Riedl, Stefan
AU - Springer, Alexander
AU - Tonnhofer, Ursula
AU - Hiess, Manuela
AU - Weninger, Julia
AU - Mahmoud, Ahmed
AU - Tilleman, Kelly
AU - Van Laecke, Erik
AU - Juul, Anders
AU - Albrethsen, Jakob
AU - De Baere, Elfride
AU - Van De Velde, Julie
AU - Verdin, Hannah
AU - Cools, Martine
N1 - Publisher Copyright: © 2022 The Authors
PY - 2022
Y1 - 2022
N2 - Background: Hypospadias affects around 1/200 newborn males. Intrauterine testicular dysfunction may underlie a subset of cases. The long-term endocrine and reproductive outcomes in these men remain largely unknown. Methods: Cross-sectional study in Ghent and Vienna University Hospitals to assess the endocrine and seminal parameters of young adult men (16–21 years) born with non-syndromic hypospadias (NSH) (n = 193) compared to healthy typical males (n = 50). Assessments included physical exam, semen analysis, hormone assays and exome-based gene panel analysis (474 genes). Findings: All participants had experienced a spontaneous puberty, in spite of higher LH and INSL3 levels than typical males. Oligo- or azoospermia was observed in 32/172 (18·6%; 99%-CI: 12·2–27·4%) of NSH men; but in 5/16 (31·3%; 99%-CI: 11·1;62·4%) of complex NSH men and in 13/22 (59·1%; 99%-CI: 33·2–80·7%) of those born small for gestational age (SGA). No (likely) pathogenic coding variants were found in the investigated genes. Suboptimal statural growth affected 8/23 (34·8%; 99%-CI: 15·4–61·0%) of men born SGA with NSH. Interpretation: Spermatogenesis is significantly compromised in NSH men, especially in those born SGA or those with complex NSH. Long-term andrological follow-up is recommended, including end-pubertal semen analysis. No clear monogenic causes could be demonstrated in our cohort even in proximal or complex NSH. Being born SGA with NSH is frequently associated with poor catch-up growth, requiring growth hormone therapy in some. Funding: Research grants from the European Society of Paediatric Endocrinology, the Belgian Society of Pediatrics, the Belgian Society of Pediatric Endocrinology and Diabetology and the Research Foundation Flanders (FWO).
AB - Background: Hypospadias affects around 1/200 newborn males. Intrauterine testicular dysfunction may underlie a subset of cases. The long-term endocrine and reproductive outcomes in these men remain largely unknown. Methods: Cross-sectional study in Ghent and Vienna University Hospitals to assess the endocrine and seminal parameters of young adult men (16–21 years) born with non-syndromic hypospadias (NSH) (n = 193) compared to healthy typical males (n = 50). Assessments included physical exam, semen analysis, hormone assays and exome-based gene panel analysis (474 genes). Findings: All participants had experienced a spontaneous puberty, in spite of higher LH and INSL3 levels than typical males. Oligo- or azoospermia was observed in 32/172 (18·6%; 99%-CI: 12·2–27·4%) of NSH men; but in 5/16 (31·3%; 99%-CI: 11·1;62·4%) of complex NSH men and in 13/22 (59·1%; 99%-CI: 33·2–80·7%) of those born small for gestational age (SGA). No (likely) pathogenic coding variants were found in the investigated genes. Suboptimal statural growth affected 8/23 (34·8%; 99%-CI: 15·4–61·0%) of men born SGA with NSH. Interpretation: Spermatogenesis is significantly compromised in NSH men, especially in those born SGA or those with complex NSH. Long-term andrological follow-up is recommended, including end-pubertal semen analysis. No clear monogenic causes could be demonstrated in our cohort even in proximal or complex NSH. Being born SGA with NSH is frequently associated with poor catch-up growth, requiring growth hormone therapy in some. Funding: Research grants from the European Society of Paediatric Endocrinology, the Belgian Society of Pediatrics, the Belgian Society of Pediatric Endocrinology and Diabetology and the Research Foundation Flanders (FWO).
KW - Andrology
KW - DSD
KW - Fertility
KW - Hypospadias
KW - Testicular dysgenesis syndrome
KW - Testicular function
U2 - 10.1016/j.ebiom.2022.104119
DO - 10.1016/j.ebiom.2022.104119
M3 - Journal article
C2 - 35759917
AN - SCOPUS:85132858235
VL - 81
JO - EBioMedicine
JF - EBioMedicine
SN - 2352-3964
M1 - 104119
ER -
ID: 326465596