Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature
, , , , , , , , oraz | 28 sie 2019
O artykule
Article Category: Case Report
Data publikacji: 28 sie 2019
Zakres stron: 81 - 88
DOI: https://doi.org/10.2478/bjmg-2019-0006
Słowa kluczowe
© 2019 Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Figure 1
Figure 2
Comparison of our patient characteristics with cases reported in the literature.
| References | This Study | ||||
|---|---|---|---|---|---|
| Parameters | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
| Age (years) | M-30 | M-19;M-26 (histology) | M-19 months | M-30 months | M-11 |
| Height | 165 cm | 167.5 cm | 75 cm | 87.8 cm (11.8 kg) | 148 cm (42 kg) |
| Penis size | 10.2 cm long; 2.6 cm wide | 3.4 cm long | 32 mm long; 13 mm wide | 5 cm | |
| Testicular size | ~ 5 mL | ~6mL | right testicle appear smaller than left testicle | 4 mL | |
| Genitals and testes | scrotal hypoplasia; retractile testes; histology: atrophic changes with loss of normal hypoplastic scrotum; spermatogenesis; thickening and hyalinization of the tubular basal lamina and diminished number of interstitial cells; normal spermatic cords | cryptochidism; hypospadias | moderate coronal hypospadias | ||
| Secondary sexual characteristics | normal | Tanner stage 5 pubic hair and penile development with small testes; onset age 13 years | NA | NA | |
| Develop- mental issues | gender dysphoria from 6 years; referred to behavioral therapist | microcephaly; developmental delay; growth retardation | none | crossdressing | |
| CAKUT | – | – | – | – | hypospadias; hypodysplasia kidney |
| Genetic alterations | two microduplications of~123 and 85 kb, the former of which spanned the entire | microdeletion; a single 343 kb immediately upstream of | a large | a unique 550 kb duplication involving |