Anti-Müllerian Hormone: A Valuable Addition to the Toolbox of the Pediatric Endocrinologist

Table 1

Etiopathogenic classification of disorders of sex development (DSD) in patients with a Y chromosome.

Etiopathogenic classification	Serum AMH	Serum T
(A) Malformative DSD
Defective morphogenesis of the wolffian ducts
Congenital absence of the vas deferens (Cystic Fibrosis)	Normal	Normal
Defective morphogenesis of the urogenital sinus and of the primordia of the; external genitalia
Cloacal malformations, aphallia, and isolated hypospadias	Normal	Normal
(B) Primary hypogonadism (early fetal-onset)
(B.1) Dysgenetic DSD: whole testicular dysfunction
Complete gonadal dysgenesis
Y chromosome aberrations
DSS duplications, 9p deletions (DMRT1/2?), 1p duplication (WNT4?)
Gene mutations: SRY, CBX2, SF1, WT1, SOX9, DHH, MAMLD1, TSPYL1,; DHCR7, and so forth	Undetectable	Undetectable
Partial gonadal dysgenesis
Same as complete gonadal dysgenesis	Low	Low
Asymmetric gonadal differentiation
45,X/46,XY, an other mosaicism, or Y chromosome aberrations	Low	Low
Ovotesticular gonadal differentiation
46,XX/46,XY; an other mosaicism	Low	Low
(B.2) Nondysgenetic DSD: cell-specific dysfunction
Leydig cell dysfunction
Mutations in LH/CG-R, StAR, P450scc, P450c17, POR, cytochrome b5,; 3β-HSD, and 17β-HSD	High in neonates and in pubertal age,; normal in childhood	Low/undetectable
Sertoli cell dysfunction
AMH gene mutations	Low/undetectable	Normal
(C) End-organ failure
(C.1) Androgen end-organ failure
Impaired DHT production
5𝛼-Reductase gene mutations	Normal	Normal
Androgen insensitivity syndrome (AIS)
Androgen receptor mutations	Partial AIS: high in neonates, normal in childhood, and inadequately high at pubertal age; Complete AIS: normal/low in neonates, normal in childhood, and very high at pubertal age	Normal/high
(C.2) AMH end-organ failure
AMHR-II mutations	Normal	Normal

3𝛽-HSD: 3𝛽-hydroxysteroid dehydrogenase; 17𝛽-HSD: 17𝛽-hydroxysteroid dehydrogenase; AGD: asymmetric gonadal differentiation; AMH: Anti-Müllerian hormone; AMHR2: Anti-Müllerian hormone receptor type 2.