RESUMO
BACKGROUND: Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. To optimize management and minimize hazards, correct and early clinical and molecular diagnosis is necessary. CASE PRESENTATION: We report a 13-year-old Chinese adolescent with absent Müllerian derivatives and suspected testis in the inguinal area. History, examinations, and assistant examinations were available for clinical diagnosis of 46,XY DSD. The subsequent targeting specific disease-causing genes, comprising 360 endocrine disease-causing genes, was employed for molecular diagnosis. A novel variation in nuclear receptor subfamily 5 group A member 1 (NR5A1) [c.64G > T (p.G22C)] was identified in the patient. In vitro functional analyses of the novel variant suggested no impairment to NR5A1 mRNA or protein expression relative to wild-type, and immunofluorescence confirmed similar localization of NR5A1 mutant to the cell nucleus. However, we observed decreased DNA-binding affinity by the NR5A1 variant, while dual-luciferase reporter assays showed that the mutant effectively downregulated the transactivation capacity of anti-Müllerian hormone. We described a novel NR5A1 variant and demonstrated its adverse effects on the functional integrity of the NR5A1 protein resulting in serious impairment of its modulation of gonadal development. CONCLUSIONS: This study adds one novel NR5A1 variant to the pool of pathogenic variants and enriches the adolescents of information available about the mutation spectrum of this gene in Chinese population.
Assuntos
Transtorno 46,XY do Desenvolvimento Sexual , Fator Esteroidogênico 1 , Adolescente , Humanos , Masculino , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/genética , Transtorno 46,XY do Desenvolvimento Sexual/patologia , População do Leste Asiático/genética , Mutação , Fator Esteroidogênico 1/genéticaRESUMO
Under a 980 nm diode laser excitation, the near-infrared (NIR) emissions from Nd3+:4F7/2, 4F5/2, and 4F3/2 states in Nd3+/Yb3+ codoped CaWO4 powder were studied at temperatures ranging from 303 to 873 K. As the temperature increased, the NIR luminescence intensity was significantly enhanced and nearly 190-fold enhancement was achieved at 873 K compared with that at 303 K. By using the fluorescence intensity ratio technique, the thermometry behaviors through the NIR emissions were investigated. The results illustrate that the sensitivity and the accuracy achieved here are much higher than temperature sensors based on other rare earth ion doped materials.