Disease #03221 (SRXY3 (46,XY sex reversal, type 3 (SRXY-3)), OMIM:612965)

Official abbreviation SRXY3
Name 46,XY sex reversal, type 3 (SRXY-3)
OMIM ID 612965
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene NR5A1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00165039 Gly165Arg PubMed: Sreenivasan 2018, Journal: Sreenivasan 2018, contributed by Ken McElreavey (Institut Pasteur) 46,XY DSD - - France - - - - - SRXY3 see paper; ..., normal adrenal phenotype, male external genitalia, absent Müllerian cells, normal testis NR5A1 NR5A1 1 1 Vincent Russel Harley
00165040 D8G PubMed: Sreenivasan 2018, Journal: Sreenivasan 2018, contributed by Ken McElreavey (Institut Pasteur) - - - France - - - - - SRXY3 see paper; ..., complete gonadal dysgenesis, female external genitalia, normal adrenal phenotype, Müllerian cells present, streak gonads (no evidence of tubules) NR5A1 NR5A1 1 1 Vincent Russel Harley
00226682 patient 5 PubMed: Fabbri-Scallet 2017 - M - Brazil - - - - - SRXY3 urethral opening penoscrotal, gonadal location (L/R) labioscrotal folds, low basal testosterone, partial testosterone response to hCG testing, dysgenetic testes bilaterally NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00227771 patient 4 PubMed: Fabbri-Scallet 2017 46,XY DSD - - Brazil - - - - - SRXY3 1.5 cm phallus, both gonads palpable in the inguinal channel, no Müllerian derivatives. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00227772 patient 6 PubMed: Fabbri-Scallet 2017 46,XY DSD - - Brazil - - - - - SRXY3 5.5 cm phallus with chordee, penoscrotal urethral opening, right gonad palpable in inguinal channel and left gonad palpable in labioscrotal fold. No Müllerian derivatives. - NR5A1 1 1 Helena Fabbri-Scallet
00227773 patient 7 PubMed: Fabbri-Scallet 2017 46,XY DSD - - Brazil - - - - - SRXY3 3.5 cm phallus with chordee, perineal urethral opening and both gonads palpable in labioscrotal folds. Male internal genitalia, with no uterus. Dysgenetic testis bilaterally. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00227774 patient 1/2/3 PubMed: Fabbri 2014 46,XY DSD; three siblings affected, heterozygous carrier mother - - Brazil - - - - - SRXY3 2-cm phallus, single perineal opening, palpable gonads in the labioscrotal folds. Laboratory data indicated high levels of FSH but normal levels of LH, and a normal testosterone response to hCG test. Absence of mullerian derivatives. NR5A1 NR5A1 1 3 Helena Fabbri-Scallet
00227818 patient 1 PubMed: Fabbri 2016 46,XY DSD - - Brazil - - - - - SRXY3 2.5 cm phallus with chordee, single penoscrotal urethral opening, bilaterally palpable gonads in the inguinal region. Streak gonad showing fibrous tissue without gonadal elements only on the right side and a dysgenetic testis on the left side. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00227861 patient 2 PubMed: Fabbri 2016 46,XY DSD - - Brazil - - - - - SRXY3 2.3 cm phallus with chordee and 2 urethral orifices, both gonads palpable on inguinal channel, no Müllerian derivatives. Dysgenetic testis. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00227862 patient 3 PubMed: Fabbri 2016 46,XY DSD - - Brazil - - - - - SRXY3 1 cm phallus with chordee and a penoscrotal urethral opening, gonads were not palpable, no Müllerian derivatives. Dysgenetic testis. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00230585 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 Urethral penoscrotal opening, palpable gonads in the labioscrotal folds. Absence of mullerian derivatives. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00230586 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 Perineal urethral opening, predominantly female external genitalia, no palpable gonads. Presence of uterus. Dysgenetic testis. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00230587 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 single penoscrotal urethral opening, palpable gonads, normal testosterone production NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00230588 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 Primary amenorrhea and absence of secondary female sex characteristics. 3-cm phallus, female urethra and a vaginal opening, no gonads were palpable. Mullerian derivatives absent. Dysgenetic testis. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00230589 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 single perineal opening, palpable gonads in the labioscrotal folds. Absence of mullerian derivatives. Dysgenetic testis. NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
00246900 - - 46,XY DSD - - Brazil - - - - - SRXY3 urethral opening penoscrotal, gonadal location (L/R) in labioscrotal folds, dysgenetic testes bilaterally NR5A1 NR5A1 1 1 Helena Fabbri-Scallet
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