• Guilherme Guaragna-Filho, Antônio Ramos Calixto, Anna Beatriz Lima do Valle Astur, Georgette Beatriz de Paula, Laurione Cândido de Oliveira, André Moreno Morcillo, Ezequiel Moreira Gonçalves, Maricilda Palandi de Mello, Andrea Trevas Maciel-Guerra, and Gil Guerra-Junior.
• MD, PhD. Adjunct Professor, Department of Pediatrics, School of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre (RS), Brazil.
• Sao Paulo Med J. 2022 Mar 1; 140 (2): 163-170.

BackgroundBecause 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.ObjectivesTo 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 SettingCase-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.MethodsBaseline 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.ResultsThere 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.ConclusionAccording to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.

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