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confirmed normal female external genitalia, and the vagina was well canalized. No palpable mass was identified in the groin. Cytogenetic analysis revealed a karyotype of 46,XY with no evidence of mosaicism, and C-banding analysis further confirmed the existence of a Y chromosome. Y-chromosome microdeletions detected by multiplex polymerase chain reaction (PCR) analysis showed the presence of SRY gene. Pelvis imaging with ultrasonography and computed tomography (CT) scanning revealed a hypoplastic uterus with a thin endometrium and bilateral fallopian tubes, while no ovaries were visualized. Laparoscopy was performed to detect the ovaries and evaluate the risk of tumor development. The bilateral streak gonads were noted (Figure 1a) and then resected. Histological examination of the fallopian tube and streak gonad showed nonneoplastic changes. Secretory cells and ciliated cells could be found in the oviduct (Figure 1b). Primordial follicles were detected in ovarian tissue (Figure 1c). On admission, she was asked for a familial history to identify possible causes for the disorder. The patient was born at term by normal delivery to nonconsanguineous parents, and her mother denied any use of hormone drugs or exposure to radioactive substances during her pregnancy. The patient has a younger brother and an 8-year-old nephew. There was no other family history of delayed puberty or infertility. Genomic DNA was isolated from the blood leukocytes of the patient, her parents, her sibling, and five fertile control males. The study was approved by the Ethics Committee of Shanghai General Hospital (Shanghai, China). Written informed consent was obtained from each participant. The human SRY gene (reference sequence: NM_003140.2) was amplified by the following two sets of primers, which were designed using Primer 5.0 (PREMIER Biosoft International, Palo Alto, CA, USA): SRY-forward 01: 5’-gaatacattgtcagggtactagggg-3’; SRY-reverse 01: 5’-caggctcacttctggatgtctta-3’; SRY-forward 02: 5 ’-gggcaagtagtcaacgttactga-3’ ; and SRY-reverse 02: 5’-ggctcacttctggatgtcttatttctt-3’. The PCR products were resolved on a 2.0% agarose gel, and then purified with gel (Nest, Wuxi, China). The resulting purified DNA was sequenced. A SRY gene mutation was identified between the patient and the reference genome (reference sequence: NM_003140.2), and then screened against the NCBI known mutation database (www.ncbi.nlm.nih.gov/SNP). Direct Dear Editor, Sex in mammals is genetically determined and defined at the cellular level by the sex chromosome constitution (XY males and XX females) and at the phenotypic level by the development of genderspecific anatomy, physiology, and behavior.1 46,XY complete gonadal dysgenesis (46,XY CGD), first reported by Swyer in 1955,2 is a rare congenital condition with completely or partially disordered gonadal development, leading to discordance between the genetic, gonadal, and phenotypic sex. Affected patients have a 46,XY karyotype, a female phenotype, normal female external genitalia, and CGD (“streak gonads”) without sperm production and follicular or steroid function.3 Moreover, the streak gonads in individuals with 46,XY CGD have a high propensity toward malignancy, and especially dysgerminoma, which occurs in about 20%–50% of patients.1 Most cases of 46,XY CGD are sporadic, but familial cases have also been reported. It is estimated that mutations in sex-determining region Y (SRY) gene were found in 30% of 46,XY CGD cases, and other cases have unknown genetic origins,4 although mutations in several genes involved in testis differentiation may be causative, such as nuclear receptor subfamily 5 group A member 1 (NR5A1), SRY-related HMG box genes 9 (SOX9), Wilms’ tumor-4 (WNT4), dosage-sensitive sex reversal (DAX1), and desert hedgehog (DHH).5 Here, we describe a de novo frameshift mutation leading to a truncated and dysfunctional form of the SRY protein. A 35-year-old female, married for 7 years, was referred to the urology clinic because of concerns about gonadal tumors. She presented for evaluation at 29 years due to the absence of menarche. Physical examination showed a patient 1.64-m tall and weighing 57.5 kg with a female appearance and voice and with no beard or laryngeal prominence. Tanner Stage II breast development and Tanner Stage I pubic hairs were noted. Gynecological examination LETTER TO THE EDITOR

A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis