A complete gonadal dysgenesis case with mental retardation, congenital hip dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occulta

Journal of Pediatric and Adolescent Gynecology
Cem DaneBanu Dane

Abstract

46,XY, or Swyer syndrome, is a complete gonadal dysgenesis. Patients usually presents with primary amenorrhea with underdeveloped secondary sex characteristics. Phenotypes of these patients are female. In this report, a Swyer syndrome case is reported with novel clinical features that are classified as connective tissue disorders. This case and the 2 other previously reported Swyer syndrome cases with ascendant aortic aneurysm and diaphragmatic hernia are suggest that the Y chromosome has an important role in the structure of connective tissue. Here we report a case of a 17-year-old with clinical features of 46,XY complete gonadal dysgenesis including external female genitalia, hypoplastic uterus, hypergonadotrophic hypogonadism, incomplete secondary sex characterics, primary amenorrhea, and normal male karyotype. In addition, she had mild mental retardation, severe rotoscoliosis, pectus excavatus, spina bifida occulta, hip dislocation, and long, slender extremities. She had a rudimentary uterus and streak gonads; after giving her cyclic estrogen and progesterone pills, she was able to menstruate. In this report, a Swyer syndrome case was discussed regarding clinical features, especially those are not characteristic for Swyer s...Continue Reading

References

May 16, 2002·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·A KempeR K Schmutzler
Sep 17, 1955·British Medical Journal·G I SWYER
Sep 25, 2004·American Journal of Medical Genetics. Part a·Alison KentMartin Silink
Nov 3, 2007·The Journal of Bone and Joint Surgery. American Volume·Daniel M SchwartzDenis S Drummond
Apr 16, 2008·BJOG : an International Journal of Obstetrics and Gynaecology·L MichalaG S Conway
Apr 14, 2009·Fertility and Sterility·Pernille Bach JorgensenJens Fedder

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