Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study

Detalhes bibliográficos
Autor(a) principal: Guaragna Filho, Guilherme
Data de Publicação: 2022
Outros Autores: Calixto, Antônio Ramos, Astur, Anna Beatriz Lima do Valle, Paula, Georgette Beatriz de, Oliveira, Laurione Cândido de, Morcillo, André Moreno, Gonçalves, Ezequiel Moreira, Mello, Maricilda Palandi de, Guerra, Andrea Trevas Maciel, Guerra Júnior, Gil
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/253172
Resumo: BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.
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spelling Guaragna Filho, GuilhermeCalixto, Antônio RamosAstur, Anna Beatriz Lima do VallePaula, Georgette Beatriz deOliveira, Laurione Cândido deMorcillo, André MorenoGonçalves, Ezequiel MoreiraMello, Maricilda Palandi deGuerra, Andrea Trevas MacielGuerra Júnior, Gil2022-12-24T05:05:32Z20221516-3180http://hdl.handle.net/10183/253172001156820BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.application/pdfengSão Paulo medical journal. São Paulo. Vol. 140, no. 2 (Mar./Apr. 2022), p. 163-170InibinasTranstornos do desenvolvimento sexualCélulas de SertoliCélulas intersticiais do testículoSomatomedinasHormônio antimüllerianoInhibin BDisorders of sex developmentSertoli cellsLeydig cellsDSDAmbiguous genitaliINSL3AMHLeydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control studyinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001156820.pdf.txt001156820.pdf.txtExtracted Texttext/plain45886http://www.lume.ufrgs.br/bitstream/10183/253172/2/001156820.pdf.txt7dab91550a7140325bd39b5c814488feMD52ORIGINAL001156820.pdfTexto completo (inglês)application/pdf214186http://www.lume.ufrgs.br/bitstream/10183/253172/1/001156820.pdf490a61286f48de2003873b0aa6dacfc1MD5110183/2531722024-01-06 04:36:54.550635oai:www.lume.ufrgs.br:10183/253172Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2024-01-06T06:36:54Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
title Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
spellingShingle Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
Guaragna Filho, Guilherme
Inibinas
Transtornos do desenvolvimento sexual
Células de Sertoli
Células intersticiais do testículo
Somatomedinas
Hormônio antimülleriano
Inhibin B
Disorders of sex development
Sertoli cells
Leydig cells
DSD
Ambiguous genitali
INSL3
AMH
title_short Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
title_full Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
title_fullStr Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
title_full_unstemmed Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
title_sort Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion : a case-control study
author Guaragna Filho, Guilherme
author_facet Guaragna Filho, Guilherme
Calixto, Antônio Ramos
Astur, Anna Beatriz Lima do Valle
Paula, Georgette Beatriz de
Oliveira, Laurione Cândido de
Morcillo, André Moreno
Gonçalves, Ezequiel Moreira
Mello, Maricilda Palandi de
Guerra, Andrea Trevas Maciel
Guerra Júnior, Gil
author_role author
author2 Calixto, Antônio Ramos
Astur, Anna Beatriz Lima do Valle
Paula, Georgette Beatriz de
Oliveira, Laurione Cândido de
Morcillo, André Moreno
Gonçalves, Ezequiel Moreira
Mello, Maricilda Palandi de
Guerra, Andrea Trevas Maciel
Guerra Júnior, Gil
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Guaragna Filho, Guilherme
Calixto, Antônio Ramos
Astur, Anna Beatriz Lima do Valle
Paula, Georgette Beatriz de
Oliveira, Laurione Cândido de
Morcillo, André Moreno
Gonçalves, Ezequiel Moreira
Mello, Maricilda Palandi de
Guerra, Andrea Trevas Maciel
Guerra Júnior, Gil
dc.subject.por.fl_str_mv Inibinas
Transtornos do desenvolvimento sexual
Células de Sertoli
Células intersticiais do testículo
Somatomedinas
Hormônio antimülleriano
topic Inibinas
Transtornos do desenvolvimento sexual
Células de Sertoli
Células intersticiais do testículo
Somatomedinas
Hormônio antimülleriano
Inhibin B
Disorders of sex development
Sertoli cells
Leydig cells
DSD
Ambiguous genitali
INSL3
AMH
dc.subject.eng.fl_str_mv Inhibin B
Disorders of sex development
Sertoli cells
Leydig cells
DSD
Ambiguous genitali
INSL3
AMH
description BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.
publishDate 2022
dc.date.accessioned.fl_str_mv 2022-12-24T05:05:32Z
dc.date.issued.fl_str_mv 2022
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv São Paulo medical journal. São Paulo. Vol. 140, no. 2 (Mar./Apr. 2022), p. 163-170
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