Suttou et. al Patients A | Suttou et. al Patients B | Suttou et. al Patients C | 4: Moalen et. al | 5: Haines.et al | 6: Vetro.et | 7: Grisponetal.et | 8: Tasic.et | 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 LH:11.IIU/L 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 Post-HCG:1.05 AMH:216 LH: < 0.1 FSH0.73 | 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 Prolactin:208.44uIU/ml LH:29.32mIU/ml FSH:37.88mIU/ml | LH0.4 IU/L FSH0.1 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 |