Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development

GRINSPON, ROMINA P.; REY, RODOLFO A.; FREIRE, ANALÍA V.

SEXUAL DEVELOPMENT

KARGER

Año: 2018 vol. 12 p. 30 - 40

1661-5425

Commonly known for testosterone secretion, the testis also produces the protein hormones anti-Müllerian hormone (AMH), inhibin B and insulin-like factor 3 (INSL3). AMH and inhibin B are secreted by Sertoli cells whereas INSL3 is a Leydig cell product. AMH is involved in fetal sex differentiation: it induces the regression of the anlagen of the uterus and Fallopian tubes, and INSL3 participates in fetal testicular descent. Serum testicular protein hormone assessment can be very useful and complementary with testosterone in patients with DSD. AMH and inhibin B are extremely helpful during childhood, when basal testosterone is normally low. Serum AMH and inhibin B above the female range are indicative of the presence of testicular tissue; their circulating levels reflect the amount of functional Sertoli cells. In DSD patients with normal male levels of AMH and inhibin B, the diagnosis of gonadal dysgenesis can be ruled out, and isolated androgen secretion deficiency or androgen insensitivity should be suspected. In externally virilised XY patients with persistent Müllerian ducts, serum AMH levels orientate the diagnosis to AMH deficiency or resistance. At pubertal age, inhibin B levels serve to predict spermatogenic development.