TY - JOUR
T1 - The association between congenital diaphragmatic hernia and undescended testes
AU - Azarow, Kenneth S.
AU - Cusick, Robert
AU - Wynn, Julia
AU - Chung, Wendy
AU - Mychaliska, George B.
AU - Crombleholme, Timothy M.
AU - Chung, Dai H.
AU - Lim, Foong Yen
AU - Potoka, Douglas
AU - Warner, Brad W.
AU - Aspelund, Gundrun
AU - Arkovitz, Marc S.
N1 - Funding Information:
Supported by: National Institute of Health grant number NIH R-01 HD057036-01 – Identification of Novel Genes for Congenital Diaphragmatic Hernia.
Funding Information:
Supported in part by: Columbia University 's CTSA grant UL1 RR024156 from NCATS-NCRR/NIH.
Publisher Copyright:
© 2015 Elsevier Inc. All rights reserved.
PY - 2015/5/1
Y1 - 2015/5/1
N2 - Background Undescended testes (UDT) is a common abnormality treated by pediatric surgeons. Embryological development of the genitourinary ridge is in close proximity with the pleuroperitoneal fold. The purpose of this paper is to describe the association between congenital diaphragmatic hernia (CDH) and UDT. Materials/methods As part of the DHREAMS (Diaphragmatic Hernia Research and Exploration: Advancing Molecular Science) study (www.cdhgenetics.com), all living children had tissue banked and analyzed for common genetic mutations and had a health assessment performed by telephone consultation with the parents at two years of age. The incidence of UDT was then compared to clinical and genetic findings previously identified. Results Sixty-five males had complete information from their 2 year health assessment. Of these, twelve (18%) had a UDT repaired by the time of the 2 year assessment. Of the twelve who had a repair, no child had a unilateral UDT which was contralateral to the side of the CDH. There were no differences in rate or number of mutations of any of the genes we checked as part of our study. Conclusion It appears that a deficiency of diaphragm tissue may affect the first or transabdominal phase of the testicular descent, leading to an increased incidence of UDT.
AB - Background Undescended testes (UDT) is a common abnormality treated by pediatric surgeons. Embryological development of the genitourinary ridge is in close proximity with the pleuroperitoneal fold. The purpose of this paper is to describe the association between congenital diaphragmatic hernia (CDH) and UDT. Materials/methods As part of the DHREAMS (Diaphragmatic Hernia Research and Exploration: Advancing Molecular Science) study (www.cdhgenetics.com), all living children had tissue banked and analyzed for common genetic mutations and had a health assessment performed by telephone consultation with the parents at two years of age. The incidence of UDT was then compared to clinical and genetic findings previously identified. Results Sixty-five males had complete information from their 2 year health assessment. Of these, twelve (18%) had a UDT repaired by the time of the 2 year assessment. Of the twelve who had a repair, no child had a unilateral UDT which was contralateral to the side of the CDH. There were no differences in rate or number of mutations of any of the genes we checked as part of our study. Conclusion It appears that a deficiency of diaphragm tissue may affect the first or transabdominal phase of the testicular descent, leading to an increased incidence of UDT.
KW - Congenital diaphragmatic hernia (CDH)
KW - Cryptorchidism Survival
KW - ECMO
KW - Undescended testicle (UDT)
UR - http://www.scopus.com/inward/record.url?scp=84928700007&partnerID=8YFLogxK
U2 - 10.1016/j.jpedsurg.2015.02.025
DO - 10.1016/j.jpedsurg.2015.02.025
M3 - Article
C2 - 25783379
AN - SCOPUS:84928700007
SN - 0022-3468
VL - 50
SP - 744
EP - 745
JO - Journal of Pediatric Surgery
JF - Journal of Pediatric Surgery
IS - 5
ER -