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.
OBJECTIVE: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion.
METHODS: 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.
CONCLUSIONS: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.
OBJECTIVE: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion.
METHODS: 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.
CONCLUSIONS: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.
摘要：
背景：因为正常的男性性分化比正常的女性性分化更复杂，有更多的性别发育障碍（DSDs）病例的46,XY核型，其病因不清楚。然而,Leydig和Sertoli细胞标记很少用于区分此类个体。
目的：为了评估生殖器歧义个体的Leydig和Sertoli细胞的功能，46，XY核型，明显的性腺和正常的睾酮分泌。
方法：对77例患者进行病例对照研究，包括8例部分雄激素不敏感综合征,8例5α-还原酶缺乏症2型（5ARD2）和19例特发性46，XYDSD，和42个健康对照，性别决定和分化跨学科研究组（GIEDDS），在坎皮纳斯州立大学（UNICAMP），坎皮纳斯,巴西。
方法：促性腺激素的基线水平，抗苗勒管激素（AMH），抑制素B,胰岛素样3（INSL3），睾酮和二氢睾酮的情况下，AMH,抑制素B,和控制中的INSL3级别，被评估。
结果：病例与对照组的年龄差异无统计学意义（P=0.595）。AMH和抑制素B水平明显低于对照组(P=0.031和P<0.001)。病例的INSL3水平明显高于对照组（P=0.003）。抑制素B水平在5ARD2患者(P=0.045)和特发性患者(P=0.001)中降低,在与控件的单独比较中。
结论：根据我们的发现，我们可以推测，抑制素B水平可能被用来区分DSD病例。
目的：为了评估生殖器歧义个体的Leydig和Sertoli细胞的功能，46，XY核型，明显的性腺和正常的睾酮分泌。
方法：对77例患者进行病例对照研究，包括8例部分雄激素不敏感综合征,8例5α-还原酶缺乏症2型（5ARD2）和19例特发性46，XYDSD，和42个健康对照，性别决定和分化跨学科研究组（GIEDDS），在坎皮纳斯州立大学（UNICAMP），坎皮纳斯,巴西。
方法：促性腺激素的基线水平，抗苗勒管激素（AMH），抑制素B,胰岛素样3（INSL3），睾酮和二氢睾酮的情况下，AMH,抑制素B,和控制中的INSL3级别，被评估。
结果：病例与对照组的年龄差异无统计学意义（P=0.595）。AMH和抑制素B水平明显低于对照组(P=0.031和P<0.001)。病例的INSL3水平明显高于对照组（P=0.003）。抑制素B水平在5ARD2患者(P=0.045)和特发性患者(P=0.001)中降低,在与控件的单独比较中。
结论：根据我们的发现，我们可以推测，抑制素B水平可能被用来区分DSD病例。
