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Your search keyword '"Pamela L. Strissel"' showing total 2 results
Start Over Author "Pamela L. Strissel" Journal human reproduction
2 results on '"Pamela L. Strissel"'

1. Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Kuster-Hauser-syndrome patients

Author

Pamela L. Strissel, M. Wottgen, A. Kellermann, Reiner Strick, Stefan P. Renner, Sara Y. Brucker, Patricia G. Oppelt, Diethelm Wallwiener, and M. W. Beckmann

Subjects
Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Pediatrics, Adolescent, Uterus, Germany, Diseases in Twins, Humans, Medicine, Abnormalities, Multiple, Sex organ, Mayer-Rokitansky-Kuster-Hauser Syndrome, Sibling, Gynecology, business.industry, Genitourinary system, Siblings, Incidence (epidemiology), Rehabilitation, Obstetrics and Gynecology, Syndrome, Middle Aged, Musculoskeletal Abnormalities, medicine.anatomical_structure, Reproductive Medicine, Urogenital Abnormalities, Vagina, Etiology, Female, business
Abstract

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a malformation of the female genital tract (vaginal aplasia, rudimentary uterus, normal fallopian tubes and high ovaries). The incidence is one in 4000 female newborns. The aim of the present study was to record genital and associated malformations among siblings and relatives of MRKH patients in order to draw possible conclusions regarding the etiology of the syndrome: her- edity (dominant versus recessive) or spontaneous malformation. METHODS: Using a standardized questionnaire, affected MRKH patients were asked about other cases of MRKH and/or associated malformations among siblings and relatives. RESULTS: No other cases of MRKH syndrome had occurred among the siblings or relatives of 73 MRKH patients; however, 13 associated malformations were recorded among a total of 103 siblings. Musculoskeletal malformations were markedly increased (3.27 times higher) in comparison with the prevalence of congenital malfor- mations among newborns in the normal population. CONCLUSIONS. This study shows that dominant inheritance cannot play a role in the etiology of MRKH syndrome, as no further cases of MRKH syndrome occurred among any of the siblings. The study provides support for the view that the syndrome has a multifactorial pathogenesis. Sib- lings/relatives of MRKH patients should be examined for associated musculoskeletal/urogenital malformations.

Published
2008
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2. Clinical aspects of Mayer–Rokitansky–Kuester–Hauser syndrome: recommendations for clinical diagnosis and staging.

Author

Peter Oppelt, Stefan P. Renner, Anja Kellermann, Sara Brucker, Georges A. Hauser, Kurt S. Ludwig, Pamela L. Strissel, Reiner Strick, Diethelm Wallwiener, and Matthias W. Beckmann

Subjects
SYNDROMES, DIAGNOSIS, GENITALIA, DYSPLASIA
Abstract

BACKGROUND: The Mayer–Rokitansky–Kuester–Hauser (MRKH) syndrome is a malformation of the female genitals (occurring in one in 4000 female live births) as a result of interrupted embryonic development of the Müllerian (paramesonephric) ducts. This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome. METHODS: Fifty-three MRKH patients were investigated using a newly developed standardized questionnaire. Together with the results of clinical and diagnostic examinations, the patients were classified into the three recognized subtypes [typical, atypical and MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia)]. RESULTS: The typical form was diagnosed in 25 patients (47%), the atypical form in 11 patients (21%), and the most marked form—the MURCS type—in 17 patients (32%). Associated malformations were notably frequent among the patients. Malformations of the renal system were the most frequent type of accompanying malformation, with 23 different malformations in 19 patients, followed by 18 different skeletal changes in 15 patients. CONCLUSIONS: In accordance with the literature, this study shows that associated malformations are present in more than a third of cases. Therefore, new basic guidelines for standard diagnostic classification involving patients with suspected MRKH are presented. [ABSTRACT FROM AUTHOR]

Published
2006
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