Gene | NR5A1/ZFPM2 | NR5A1/SRD5A2 | NR5A1/MAP3K1 | NR5A1/MAP3K1 |
---|---|---|---|---|
Coding change | c.G251A/c. A2107C | c.1114_1116del^/c. G680A | c.937C > T/c.710A > G | c.929A > C/c.2282T > C |
Protein change | p. Arg84His/p. Met703Leu | p. Lys372del^/p. Arg227Gln | p. Arg313Cys/p. Gln237Arg | p. His310Pro/p. Ile761Thr |
Zygosity | Heterozygous/Heterozygous | Heterozygous/Heterozygous | Heterozygous/Heterozygous | Heterozygous/Heterozygous |
External genitalia | Clitoromegaly one perineal opening | Proximal hypospadias | Swollen clitoris, urethral openings at tip | hypospadias |
Gonadal location | Bilateral inguinal region | Bilateral scrotum | Bilateral inguinal region | Scrotum |
Müllerian structures | Not | Not | Not | Not |
Basal testosterone | T&DHT markedly decreased | T-elevated, DHT-normal | T&DHT markedly decreased | T&DHT markedly decreased |
Basal gonadotrophins | LH-elevated, FSH-elevated | LH-normal, FSH-elevated | LH-decreased, FSH- decreased | LH-decreased, FSH-normal |
T resp. hCG | No response | Elevated | Poor response | Elevated |
LH resp. hCG | ND | ND | Elevated | Elevated |
FSH resp. hCG | ND | ND | Elevated | Elevated |
AMH | Decreased | Decreased | Elevated | Elevated |
Adrenal function | Normal | Normal | Normal | Normal |
Reference | Gorjana, et al., 2017 | Gorjana, et al., 2017 | Inas, et al., 2016 | Novel |