Grinspon Romina P, Loreti Nazareth, Braslavsky Débora, Valeri Clara, Schteingart Helena, Ballerini María Gabriela, Bedecarrás Patricia, Ambao Verónica, Gottlieb Silvia, Ropelato María Gabriela, Bergadá Ignacio, Campo Stella M, Rey Rodolfo A
Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET, FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez , Buenos Aires , Argentina.
Front Endocrinol (Lausanne). 2014 May 7;5:51. doi: 10.3389/fendo.2014.00051. eCollection 2014.
In early fetal development, the testis secretes - independent of pituitary gonadotropins - androgens and anti-Müllerian hormone (AMH) that are essential for male sex differentiation. In the second half of fetal life, the hypothalamic-pituitary axis gains control of testicular hormone secretion. Follicle-stimulating hormone (FSH) controls Sertoli cell proliferation, responsible for testis volume increase and AMH and inhibin B secretion, whereas luteinizing hormone (LH) regulates Leydig cell androgen and INSL3 secretion, involved in the growth and trophism of male external genitalia and in testis descent. This differential regulation of testicular function between early and late fetal periods underlies the distinct clinical presentations of fetal-onset hypogonadism in the newborn male: primary hypogonadism results in ambiguous or female genitalia when early fetal-onset, whereas it becomes clinically undistinguishable from central hypogonadism when established later in fetal life. The assessment of the hypothalamic-pituitary-gonadal axis in male has classically relied on the measurement of gonadotropin and testosterone levels in serum. These hormone levels normally decline 3-6 months after birth, thus constraining the clinical evaluation window for diagnosing male hypogonadism. The advent of new markers of gonadal function has spread this clinical window beyond the first 6 months of life. In this review, we discuss the advantages and limitations of old and new markers used for the functional assessment of the hypothalamic-pituitary-testicular axis in boys suspected of fetal-onset hypogonadism.
在胎儿发育早期，睾丸独立于垂体促性腺激素分泌雄激素和抗苗勒管激素（AMH），这两种激素对男性性别分化至关重要。在胎儿期后半段，下丘脑 - 垂体轴开始控制睾丸激素分泌。促卵泡生成素（FSH）控制支持细胞增殖，这对睾丸体积增大以及AMH和抑制素B的分泌负责，而黄体生成素（LH）调节睾丸间质细胞雄激素和胰岛素样肽3（INSL3）的分泌，这些激素参与男性外生殖器的生长和营养供应以及睾丸下降。胎儿期早期和晚期睾丸功能的这种差异调节是新生儿男性胎儿期性腺功能减退不同临床表现的基础：胎儿期早期发病的原发性性腺功能减退会导致生殖器模糊或呈女性生殖器外观，而在胎儿期后期发病时，临床上则无法与中枢性性腺功能减退区分开来。传统上，男性下丘脑 - 垂体 - 性腺轴的评估依赖于血清中促性腺激素和睾酮水平的测定。这些激素水平通常在出生后3 - 6个月下降，从而限制了诊断男性性腺功能减退的临床评估窗口。性腺功能新标志物的出现将这个临床窗口扩展到了生命的前6个月之后。在本综述中，我们讨论了用于疑似胎儿期性腺功能减退男孩下丘脑 - 垂体 - 睾丸轴功能评估的新旧标志物的优缺点。
