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

Abstract 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.

Serum levels of retinol binding protein 4 in women with different levels of adiposity and glucose tolerance / Níveis séricos da proteína carreadora do retinol 4 em mulheres com diferentes níveis de adiposidade e tolerância à glicose

Objective Retinol-binding protein 4 (RBP4) is an adipokine responsible for vitamin A (retinol) transportation. Studies associated RBP4 increased levels with severity of type 2 diabetes mellitus (T2DM) and insulin resistance (IR). The study aimed to quantify RBP4 serum standards in women with a wide range of body mass index (BMI) and glucose tolerance level. Subjects and methods: Cross-sectional study was performed with 139 women divided into three groups: Group 1 (lean-control, n = 45) and Group 2 (obese, n = 53) with normal glucose tolerance and group 3 (obese with T2DM, n = 41), called G1, G2 and G3. Were assessed clinical, biochemical, anthropometric and body composition parameters. Results According to data analysis, we obtained in G1 higher RBP4 levels (104.8 ± 76.8 ng/mL) when compared to G2 (87.9 ± 38 ng/mL) and G3 (72.2 ± 15.6 ng/mL) levels. Also, were found: in G1 positive correlations of RBP4 with BMI (r = 0.253), glycated hemoglobin (r = 0.378) and fasting insulin (r = 0.336); in G2 with glycated hemoglobin (r = 0.489); in G3 with glycated hemoglobin (r = 0.330), fasting glucose (r = 0.463), HOMA-IR (r = 0.481). Conclusions Although RBP4 have shown lower levels in diabetic and obese, a strong correlation with HOMA-IR index highlights that, in our study, there is growing IR when there is an increasing in RBP4 levels. .

Objetivo A proteína carreadora do retinol 4 (RBP4) é uma adipocina responsável pelo transporte de vitamina A (retinol). Estudos associam os níveis aumentados de RBP4 com a gravidade do diabetes melito tipo 2 (DM2) e resistência à insulina (RI). O objetivo deste estudo foi investigar como esses níveis se comportam em mulheres com ampla variação do índice de massa corporal (IMC) e tolerância à glicose. Sujeitos e métodos: Estudo transversal realizado com 139 mulheres, divididas em três grupos: Grupo 1 (controles-magras; n = 45) e Grupo 2 (obesas; n = 53), com tolerância normal à glicose; Grupo 3 (obesas DM2; n = 41), denominados G1, G2 e G3. Foram avaliados parâmetros clínicos, bioquímicos, antropométricos e composição corporal. Resultados De acordo com a análise dos dados, obtivemos em G1 maiores níveis de RBP4 (104,8 ± 76,8 ng/mL) em comparação ao G2 (87,9 ± 38 ng/mL) e G3 (72,2 ± 15,6 ng/mL). Também foram encontradas correlações positivas entre RBP4 e IMC (r = 0,253), hemoglobina glicada (r = 0,378) e insulinemia de jejum (r = 0,336); em G2 com hemoglobina glicada (r = 0,489); G3 com hemoglobina glicada (r = 0,330), insulinemia de jejum (r = 0,463) e HOMA-IR (r = 0,481). Conclusões Embora a RBP4 tenha apresentado níveis menores em pacientes diabéticas e obesas, a forte correlação com o índice HOMA-IR deixa claro que, em nosso estudo, há crescente RI quando os níveis dessa proteína também são crescentes. .