نتایج جستجو برای: 46xy dsd

تعداد نتایج: 1104  

2015
Aimee M Rolston Melissa Gardner Eric Vilain David E Sandberg

Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD-associated stigma is purported to threaten positive psychosocial adaptation. Parental perceptions of DSD-related stigma were assessed in 154 parents of 107 children (newborn-17 years) questionnaire comprising two scales, child-focused and parent-focused, and t...

2015
Chunqing Wang Qinjie Tian

OBJECTIVE In the process of care for disorders of sex development (DSD), clinical decisions should focus on the long-term quality of life (QOL). We sought to investigate the QOL of patients with DSD in China. DESIGN Case-control study was carried out. PATIENTS 90 patients of DSD participated in the study. Finally, 87 patients were analyzed including Turner's syndrome (23), Noonan syndrome (...

2008
C. Caracciolo F. Prodi

The drop size distribution (DSD) is a fundamental property of rainfall because the shape of the distribution reflects the physics of rain formation processes. Given the lack of studies on the DSD at mid-latitudes, the present work focuses on the microphysical characterization of precipitation events occurring in Italy, using two different types of disdrometer. A large number of different rain e...

Journal: :Hormones and behavior 2014
Amy B Wisniewski Blas Espinoza-Varas Christopher E Aston Shelagh Edmundson Craig A Champlin Edward G Pasanen Dennis McFadden

Both otoacoustic emissions (OAEs) and auditory evoked potentials (AEPs) are sexually dimorphic, and both are believed to be influenced by prenatal androgen exposure. OAEs and AEPs were collected from people affected by 1 of 3 categories of disorders of sex development (DSD) - (1) women with complete androgen insensitivity syndrome (CAIS); (2) women with congenital adrenal hyperplasia (CAH); and...

Journal: :Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012
V N Meyers-Wallen

The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cas...

Journal: :The Journal of pediatrics 2006
David A Diamond Jeffrey P Burns Christine Mitchell Kersten Lamb Alex I Kartashov Alan B Retik

OBJECTIVE Sex assignment to newborns with ambiguous genitalia is controversial. Our objective was to determine the attitudes and practices of pediatric urologists on this subject. STUDY DESIGN A survey of fellows in the Urology Section of the American Academy of Pediatrics was completed by 185/228 (81%). The survey referred to two cases, masculinized 46XX congenital adrenal hyperplasia (CAH) ...

2017
Montserrat Lara-Velazquez Alexander Perdomo-Pantoja Patrick R Blackburn Jennifer M Gass Thomas R Caulfield Paldeep S Atwal

BACKGROUND The CYP11A1 gene encodes the cytochrome P450 side-chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum in affected 46XY males may vary from surgically repairable defects including cryptorchidism and hy...

Journal: :Journal of Medical Genetics 1966

2016
Martin Kathrins Thomas F. Kolon

Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible marke...

2015
Karen Lin-Su Oksana Lekarev Dix P Poppas Maria G Vogiatzi

BACKGROUND As the benefits of patient-centered care have become more widely recognized, it is important to understand patients' sentiments regarding aspects affecting their care. In an effort to display more sensitivity to patient concerns, the term "disorders of sex development" (DSD) was proposed in 2006 as new nomenclature to replace older terms that were considered to have negative connotat...

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