MüLLERIAN duct anomalies （MDA） are abnor- malities occurring in the müllerian duct due to abnormal development of the uterus, cervix and vagina. Reported prevalence of this malformation in general populati...MüLLERIAN duct anomalies （MDA） are abnor- malities occurring in the müllerian duct due to abnormal development of the uterus, cervix and vagina. Reported prevalence of this malformation in general population was 4%-5%. But real figure may be greater because of unawareness of these diseases due to its asymptomatic nature.展开更多
The postmortem examination of a 59-year-old man who had suffered from acute abdominal pain for two days revealed that the cause of death was peritonitis secondary to perforated peptic ulceration. During examination,it...The postmortem examination of a 59-year-old man who had suffered from acute abdominal pain for two days revealed that the cause of death was peritonitis secondary to perforated peptic ulceration. During examination,it was found that the urinary tract was abnormal. Here, we report a postmortem finding of aplastic renal dysplasia of the kidney and malformation of the urinary tract.展开更多
Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we pre...Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 （DAX-1） mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation （1268delA） of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.展开更多
文摘MüLLERIAN duct anomalies （MDA） are abnor- malities occurring in the müllerian duct due to abnormal development of the uterus, cervix and vagina. Reported prevalence of this malformation in general population was 4%-5%. But real figure may be greater because of unawareness of these diseases due to its asymptomatic nature.
文摘The postmortem examination of a 59-year-old man who had suffered from acute abdominal pain for two days revealed that the cause of death was peritonitis secondary to perforated peptic ulceration. During examination,it was found that the urinary tract was abnormal. Here, we report a postmortem finding of aplastic renal dysplasia of the kidney and malformation of the urinary tract.
基金Project supported by the Department of Education of Zhejiang Province(No.Y201430646),China
文摘Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 （DAX-1） mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation （1268delA） of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.
