Table 2.

Molecular and clinical features of 46,XY individuals with mutations in SF-1 (NR5A1)

Mutation			Adr	External genitalia	Testis	Uterus	Reference
Substitution	Form	Inheritance
p.G35E	hetero	de novo	+	female	severe	+	Achermann et al. [1999]
p.R92Q	homo	recessive	+	female	NK	+	Achermann et al. [2002]
c.424_427dup + p.G146A	hetero + SNP	NK	−	female	severe	+	Köhler et al. [2008]
p.M78I	hetero	SLD	−	female	mild	(+)	Lin et al. [2007]
p.V15M	hetero	de novo	−	female	mild	−	Lin et al. [2007]
p.R84C+ p.G.146A	hetero + SNP	SLD+ SNP	−	ambiguous	mild	−	Reuter et al. [2007]
p.C91S	hetero	SLD	−	ambiguous	mild	(+)	Lin et al. [2007]
p.C16X	hetero	de novo	−	ambiguous	mild	+	Mallet et al. [2004]
c.18delC	hetero	de novo	−	ambiguous	mild	−	Hasegawa et al. [2004]
c.1058_1065del	hetero	de novo	−	ambiguous	regressa	−	Correa et al. [2004]
p.C33S	hetero	de novo	−	ambiguous	mild	−	Köhler et al. [2008]
p.R84H	hetero	de novo	−	ambiguous	normal	−	Köhler et al. [2008]
p.Y138X	hetero	de novo	−	ambiguous	mild	−	Köhler et al. [2008]
c.536delC	hetero	SLD	−	ambiguous	normal	−	Coutant et al. [2007]
c.1277dupT	hetero	SLD	−	ambiguous	normal	−	Köhler et al. [2008]
p.L437Q	hetero	de novo	−	hypospadias	mild	−	Lin et al. [2007]
p.V355M	hetero	SLD	−	micropenis	regress	−	Philibert et al. [2007]

^aGonadal tissue not found at laparoscopy at age 31 years.

Modified with permission from Köhler et al. [2008]. hetero = Heterozygous; homo = homozygous; SNP = single nucleotide polymorphism; NK = not known; SLD = sex-limited dominant; Adr = adrenal failure; + = present; − = absent; (+) = remnant present; ambiguous = clitoromegaly or ambiguous genitalia.