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Table 2 Reported patients with digenic inheritance of 46, XY DSD associated with NR5A1 variants

From: Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

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

  1. AMH anti Müllerian hormone, T testosterone, DHT dihydrotestosterone, FSH follicle stimulating hormone, LH luteinizing hormone, ND not done, hCG human chorionic gonadotropin