Detection of RXFP1 receptors in skin biopsies from children with congenital adrenal hyperplasia: A preliminary report

Timothy E. Cooney, Ronak A. Gor, Donald W. Pfaff, Justine M. Schober

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Objective: Relaxin may potentiate the effect of topical estrogen treatment to eradicate post-incisional scarring in congenital adrenal hyperplasia (CAH) patients undergoing genitoplasty. The aim of this study was to determine whether CAH skin is capable of responding to relaxin. Patients and methods: Skin biopsies were obtained from four female CAH patients (aged 2-9 years; Prader 4-5, salt-wasting, 21-hydroxylase deficiency, Caucasian) during routine genitoplasty surgery and screened for relaxin receptors. All received corticosteroid and mineralocorticoid replacement therapy. Specimens were sectioned, mounted and screened for the presence of the putative H2 relaxin receptor using conventional two-antibody immunohistochemistry. Tissue controls were processed concurrently. Results: Tissue controls evidenced appropriate staining. Biopsies from CAH patients stained positively for RXFP1 expression while some variation between specimens was evident. Staining occurred adjacent to the basement membrane of the epithelium, localized to germinative basal keratinocytes. Conclusion: Based on a limited patient sample, germinative keratinocytes in CAH patients appear competent to respond to relaxin perhaps topically applied. Given that relaxin downregulates collagen accretion and upregulates collagenases, its use may potentiate the effects of estradiol and abrogate post-incisional wound scarring. More research is needed to confirm or refute this thesis.

Original languageEnglish (US)
Pages (from-to)389-395
Number of pages7
JournalJournal of Pediatric Urology
Issue number4
StatePublished - Aug 2010

Bibliographical note

Funding Information:
The authors wish to thank Drs. Peter Depowski and Andrew Creager for their histology advice. This study was funded by a grant from the Hess–Roth–Kaminsky Urological Fund, Erie Community Foundation, Erie, PA. The authors are indebted to Dr. Richard Ivell, University of Adelaide (Australia), for providing the anti-RXFP1 antibody used in this study.

Funding Information:
Research materials for this study were underwritten by a grant from the Hess–Roth–Kaminsky Urologic Fund, Erie Community Foundation, Erie, PA. The authors did not receive any financial benefits from this research grant.

Copyright 2011 Elsevier B.V., All rights reserved.


  • Congenital adrenal hyperplasia
  • Keratinocytes
  • Receptors
  • Relaxin

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