Müllerian inhibiting substance in the diagnosis and management of intersex and gonadal abnormalities

摘要: Abstract Mullerian inhibiting substance (MIS), a gonadal hormone important in sexual differentiation, is high (10 to 70 ng/mL) human male serum postnatally for several years before declining during the peripubertal period, but undetectable female until onset of puberty. The sexually dimorphic secretion MIS suggested possibilities its use clinical settings. Thirty-one patients with intersex and anomalies from 17 institutions were therefore evaluated between 1989 1992 an enzyme-linked immunosorbent assay (ELISA). Serum levels correlated presence testicular tissue two suspected anorchia, five pseudohermaphroditism, eight other undescended testes, dysgenetic gonads, or ovotestes. In these latter patients, serial values also helpful confirm complete removal postoperatively. may be more sensitive marker than testosterone levels, both after neonatal androgen surge, and, consequently, obviate need chorionic gonadotropin stimulation evaluation certain disorders. persistent duct syndrome, useful differentiating underlying etiology disorder. Four have presumptive gene mutations, while 7 others 2 45 ng/mL bioinactive receptor defects. Finally, young girls ovarian granulosa cell tumors had elevated that fell 18 6.5 1 postoperative follow-up. level patient has recently increased 7.2 ng/mL, raising question residual tumor. Data adults similar sex cord suggest can followed as recurrent disease. Thus, determination concentrations diagnosis management variety abnormalities.