46,XY Sex Reversal 3; SRXY3

What is 46,XY Sex Reversal 3; SRXY3?

46,XY Sex Reversal 3; SRXY3 is a rare disease. It is also known as 46,xy Gonadal Dysgenesis, Partial Or Complete, With Or Without Adrenal Failure 46,xy Sex Reversal, Partial Or Complete, Nr5a1-related Disorder Of Sex Development, 46,xy, Nr5a1-related Sex Reversal, Xy, With Or Without Adrenal Failure.

Domenice e al. (2016) described eleven patients with heterozygous NR5A1 mutations. Ten patients had 46,XY karyotype. Clinical features included atypical external genitalia (clitoromegaly in six patients, phallus in two patients, and one had female genitalia) and perineal hypospadias. Gonads were palpable in seven patients and mullerian ducts were present in three patients. Eight patients underwent genitoplasty and seven underwent gonadectomy (between 9 months and 15.5 years). Eight individuals were reared as female; one individual had changed the sex from female to male at the age of nine years. Postpubertal patients had elevated gonadotropin levels, mainly FSH. The remaining patient with 46,XX karyotype, had ambiguous genitalia with no palpable gonads, absent mullerian ducts, was reared as male, and underwent genitoplasty.

Colson et al. (2016) described a female with 46,XY who had virilization at puberty. She underwent surgery removal of both gonads, displaying dysgenetic testis with seminiferous tubules; in addition three accessory spleens were found. A heterozygous protein truncating mutation in NR5A1 was identified. The father was also affected and had asplenia and hypospadias.

Werner et al. (2017) described four 46,XY patients with disorder of sex development due to heterozygous mutations in the NR5A1 gene. Patient 1 had ambiguous genitalia with prominent labioscrotal folds, palpable gonads, micropenis and hypoplastic testicular gonads without Müllerian remnants. On histology, the gonads showed a neonatal testicular appearance with germ cells. Male gender was assigned and surgeries for reconstruction were performed. At puberty, testes were palpable and azoospermia was diagnosed. Patient 2 had ambiguous genitalia with rugated labioscrotal folds, partial labioscrotal fusion, and micropenis. Laboratory findings demonstrated abnormal gonadal androgen biosynthesis. A short urogenital sinus and absence of Müllerian duct derivatives were diagnosed. Two testis-like structures were found in inguinal canals but no epididymis and no ductus deferens were detected. The patient was raised as a female. Patient 3, raised as a male, had bifid scrotum, small phallus, chordae and scrotal hypospadias. Patient 4 (the sister of patient 3), had amenorrhea at 14.5 years, no pubic hair, no breast development, small uterus and small dysgenetic gonads. The patient had regular menses under estrogen replacement.

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What gene changes cause 46,XY Sex Reversal 3; SRXY3?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 612965 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
LHCGR - 2p16.3
NR5A1 - 9q33.3
CYP11A1 - 15q24.1

What are the main symptoms of 46,XY Sex Reversal 3; SRXY3?

The typical symptoms of the syndrome are:
Sex-limited autosomal dominant, Streaky metaphyseal sclerosis, Sex reversal, Gonadal dysgenesis

How does someone get tested for 46,XY Sex Reversal 3; SRXY3?

The initial testing for 46,XY Sex Reversal 3; SRXY3 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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