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Table 2 Cases of SOX3 related XX male reversal

From: Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review

  Suttou et. al
Patients A
Suttou et. al
Patients B
Suttou et. al
Patients C
4: Moalen et. al 5: al 6: 7: 8: 9: Zhuang.J et 10: Qin,S et Our patient
Disorders of sex developmen XX male reversal XX male reversal XX male reversal XX male reversal OT-DSD XX male reversal OT-DSD XX male reversal OT-DSD XX male reversal OT-DSD
Age 30 years Endocrine:19 years histology:26 years 1.5 years 1 years 1.5 months 8 years 2.5 years 11 years 7 years 31 years 5 years
Growth and developmental issues Normal Developmental delay;microcephaly Developmental and growth delay,microcephaly Normal normal Mild intellectual disability Normal Normal Normal Normal Normal
Hormone analysis FSH:22.0mIU/ml
Prolactin 17.9ug/l
Free T:1.92 ng/dl
FSH:69.0 mIU/ml
LH:35.0 IU/L
Prolactin 3.0ug/l
Free T:0.86 ng/dl
Unknow FSH/LH/T:normal T:9.2 nmol/L
Post-HCG:T:2.1 → 24.6 nmol/l
DHT:2.0 → 7.5 nmol/l
Androstenedione0.6 → 1.1 nmol/l
Unknow T(nmol/l)
Basal: < 0.35
LH: < 0.1
Post HCG: T:146 ng/ml
A:T: < 1
T:DHT was 5.6
LH < 0.2mIU/ml
FSH:1.21 mIU/ml
T: < 0.1 ng/ml
Serum progesterone/prolactin:normal
T:1.75 ng/ml
Progesterone:0.11 ng/ml
LH0.4 IU/L
Prolactin:4.87 ng/ml
T: < 2.5 ng/dl
AMH:48.48 ng/ml
Post-HCG:T:62.9 ng/dl
Genitals Unkown penile development with small testis.Shaft length, 10.2 cm; shaft diameter, 2.6 cm Right testicles appear smaller than left;Hypoplastic scrotum;testes are retractile and can be brought down Left cryptorchidism Bifid scrotum; small phallus; distal hypopadias Normal Hypospadias and bilateral cryptorchidism Moderate coronal hypospadias Hypospadias and bilateral cryptorchidism Normal Scrotal hypospadias and bilateral cryptorchidism
Gonadal Histology No details Testicular dysgenesis No details No details Right:ovotesticular No details The testicular tissue and ovarian tissue all exist.Andtesticular dysgenesis No details The ovotesticular tissue on the left side and the testicular tissue on the right side No details Right:ovotesticular tissue; Left: testicular tissue
Testicular dysgenesis
Associated anomalies Normal Fallopian tube, hemiuterus and hemivagina on the right gonads Kidney hypodysplasia Prostatic utricle
Genotypes SRY negative
Two microduplications were observed,the first of which spanned the entire sox3 gene
Single 343-kb microdeletion on the X-chromosome immediately upstream of SOX3 SRY negative
6 Mb duplication that encompasses sox3 and at least 18 additional distally located genes
SRY negative
0.494 Mb copy number gain in region Xq27.1 which contains the SOX3, RP1-177G6.2, CDR1
SRY negative
carries 774 kb insertion translocation from chromosome 1 into a 82 kb distal to SOX3
A 5.6 Mb duplication of the long arm of a chromosome X, involving the SOX3 gene SRY negative,
at Xq27.1. The duplicated region was around 0.5 Mb, and encompassed the SOX3
A unique 550 kb duplication involving SOX3 SRY negative
2.2 Mb duplication that encompasses SOX3 gene
SRY negative, 867 kb heterozygous deletion in Xq27.1,located at 104 kb downstream of SOX3 SRY negative
1.4 Mb duplication that encompasses SOX3,CDR1,SPANXA1