Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis.
نویسندگان
چکیده
Growth and performance Prenatal onset growth deficiency + + Psychomotor retardation + + Decreased visual responsiveness + + Hearing loss + + Craniofacies Microcephaly + + Triangular face + + Micrognathia + + Prominent nasal bridge 0 + Hypoplastic nasal alae + Eyes Ptosis + + Short palpebral fissures 0 + Epicanthal folds + + Upward slanting palpebral fissures + Ears Malformed + + Preauricular pits + Other Polydactyly (postaxial) + (feet) + (hands) Cryptorchidism + + Heart murmur + + Limited joint mobility + Hernias +
منابع مشابه
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.
46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions. She had Tanner stage 1 thelarche, and Tanner stage 2 pubic hair development with no axillary hair development...
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OBJECTIVE Frasier syndrome (FS) phenotype in 46,XY patients usually consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma and the development of end stage renal failure usually in the second decade of life. FS is caused by heterozygous de novo intronic splice site mutations of the Wilms' tumor suppressor gene 1 (WT1), although a few cases with typical exonic WT1...
متن کامل9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Deletion of the distal segment of 9p causes a syndrome comprising trigonocephaly, minor anomalies, and intellectual disability. Patients with this condition also frequently present with genitourinary abnormalities including cryptorchidism, hypospadias, ambiguous genitalia, or 46,XY testicular dysgenesis. The region responsible for the gonadal dysgenesis has been localized to 9p24.3 with the lik...
متن کاملMixed germ cell tumor of ovary and clitoromegaly in Swyer's syndrome: a case report.
Swyer syndrome is a type of pure gonadal dysgenesis correlating with 46 XY karyotype, primary amenorrhea, and female internal and external genitalia. It reveals a testicular differentiation abnormality.A 16-year old girl admitted to our center with primary amenorrhea and abdominal mass. In spite of the absence of normal testis, clitoromegaly was noticed. Peripheral blood karyotype analysis show...
متن کاملA novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient
Introduction Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals also have a high risk of developing t...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 19 1 شماره
صفحات -
تاریخ انتشار 1982