Down syndrome in association with features of the androgen insensitivity syndrome.
نویسندگان
چکیده
Three cases of Down syndrome (DS) are reported in association with features of the androgen insensitivity syndrome (AIS). All were 47, XY, +21 and reared as females. One case had a normal female phenotype, and two cases showed minimal clitoromegaly and labial fusion. Minor genital underdevelopment has been reported as common in males with DS; however, AIS has not previously been associated with DS. Androgen binding studies in genital skin fibroblasts were normal in two cases and in the 46,XY brother of the third who has perineal hypospadias. Mutation screening of the androgen receptor (AR) gene by PCR-SSCP was normal in all cases. Normal androgen binding and the absence of an identified mutation in the coding region of the AR gene is very unusual in AIS, particularly in the complete form. This finding suggests the operation of hitherto unrecognised genes on chromosome 21 with a role in androgen response and sex differentiation.
منابع مشابه
P-216: Common Polymorphisms of StAR Gene Are Not Associated with Polycystic Ovary Syndrome in Iranian Patients
Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders, affecting 5-10% of reproductive aged women. High levels of androgen hormone can be accounted as the most important symptoms in PCOS. Androgen is the precursor of steroid biosynthesis in ovary. The transport of cholesterol to the inner mitochondrial membrane through StAR protein is also necessary for andr...
متن کاملP-91: Androgen Associated Gene Polymorphism(s) in Women with Polycystic Ovary Syndrome from South Indian Population
Background: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder affecting 4-12% of reproductive women worldwide; characterized by chronic anovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovaries on ultrasound scan. Ovarian androgen overproduction is the key pathophysiologic feature of PCOS. A number of genes encoding major enzymes of the androgen meta...
متن کاملCongenital Heart Disease in Children with Down syndrome in Kermanshah, West of Iran during 2002 - 2016
Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah...
متن کاملThe Association of Health System Functions With Down Syndrome Prevalence and Mortality Across World Countries
Objective: Down syndrome or trisomy 21 is one of the most common human chromosomal disorders that affect cognitive functions, communication and behavioral skills. At the macro level, various factors can contribute to the Down syndrome prevalence and mortality. This study aimed to investigate the association of health system functions with Down syndrome prevalence and mortality worldwide. Mater...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 33 7 شماره
صفحات -
تاریخ انتشار 1996