Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study.

Autor:	Tack LJW; Department of Internal Medicine and Pediatrics, Ghent University and Pediatric Endocrinology Service, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium., Spinoit AF; Department of Urology, Ghent University Hospital, Ghent University, Ghent, Belgium., Hoebeke P; Department of Urology, Ghent University Hospital, Ghent University, Ghent, Belgium., Riedl S; Division of Pediatric Pulmonology, Allergology and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Springer A; Department of Pediatric Surgery, Medical University of Vienna, Vienna, Austria., Tonnhofer U; Department of Pediatric Surgery, Medical University of Vienna, Vienna, Austria., Hiess M; Department of Pediatric Urology Ordensklinikum Linz, Hospital of the Sisters of Charity, Linz, Austria., Weninger J; Department of Pediatric Surgery, Medical University of Vienna, Vienna, Austria., Mahmoud A; Department of Endocrinology/Andrology, University Hospital Ghent, Ghent, Belgium., Tilleman K; Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium., Van Laecke E; Department of Urology, Ghent University Hospital, Ghent University, Ghent, Belgium., Juul A; Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Denmark., Albrethsen J; Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., De Baere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van De Velde J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Verdin H; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Cools M; Department of Internal Medicine and Pediatrics, Ghent University and Pediatric Endocrinology Service, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium. Electronic address: Martine.Cools@ugent.be.
Jazyk:	angličtina
Zdroj:	EBioMedicine [EBioMedicine] 2022 Jul; Vol. 81, pp. 104119. Date of Electronic Publication: 2022 Jun 24.
DOI:	10.1016/j.ebiom.2022.104119
Abstrakt:	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). Competing Interests: Declaration of interests The authors report no conflicts of interest. (Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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