نتایج جستجو برای: 46xy dsd

تعداد نتایج: 1104  

2013
Eiji Hisamatsu Yoshikiyo Nakagawa Yoshifumi Sugita

Ovotesticular disorder of sex development (ovotesticular DSD) is defined as the presence of testicular and ovarian tissue in the same individual. Both external and internal genitalia of patients with ovotesticular DSD display a spectrum of phenotypes. Most children present with ambiguous genitalia in combination with unilateral or bilateral undescended gonads. We experienced two late-diagnosed ...

2013
Kathryn Doroschak Lenore Cowen

Characterizing protein function is a crucial part of understanding biological systems. Here we improve protein function prediction by accounting for data quality issues inherent in protein-protein interaction (PPI) databases. To accomplish this, we incorporate confidence information into the function prediction pipeline. The model pipeline uses weighted majority voting on the proteinprotein int...

Journal: :International Journal of Genetics and Molecular Biology 2023

Disorders of sex development (DSD) when diagnosed early is important as it pose a real public health problem in Senegal. Among the supporting tools, molecular ones, which are not available everywhere very useful. In this context, cytogenetic and analyses were implemented cytology laboratory at Aristide Le Dantec hospital to enhance DSDs diagnosis well evaluate impact parents' age on such ab...

Journal: :Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2011
M Barbaro M Cools L H J Looijenga S L S Drop A Wedell

Steroidogenic factor 1 (SF1, officially NR5A1) is a nuclear receptor involved in adrenal and gonadal development. NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia wit...

Journal: :The Journal of chemical physics 2014
J J Rehr F D Vila

We investigate the origin and physical effects of "dynamic structural disorder" (DSD) in supported nano-scale catalysts. DSD refers to the intrinsic fluctuating, inhomogeneous structure of such nano-scale systems. In contrast to bulk materials, nano-scale systems exhibit substantial fluctuations in structure, charge, temperature, and other quantities, as well as large surface effects. The DSD i...

Journal: :CoRR 2016
Leonel Arevalo Rodrigo C. de Lamare Martin Haardt Raimundo Sampaio Neto

Massive multiple-input multiple-output (MIMO) systems are strong candidates for future fifth generation (5G) heterogeneous cellular networks. For 5G, a network densification with a high number of different classes of users and data service requirements is expected. Such a large number of connected devices needs to be separated in order to allow the detection of the transmitted signals according...

2016
S. Faisal Ahmed John C. Achermann Wiebke Arlt Adam Balen Gerry Conway Zoe Edwards Sue Elford Ieuan A. Hughes Louise Izatt Nils Krone Harriet Miles Stuart O'Toole Les Perry Caroline Sanders Margaret Simmonds Andrew Watt Debbie Willis

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional...

2015
Pham Thu Nga Vu Chi Dung Bui Phuong Thao Nguyen Ngoc Khanh Can Thi Bich Ngoc Hoan Nguyen Thi Dat Nguyen Phu

Method Patients were examined, diagnosed and treated DSD or ambiguous sex at (NHP) from 31/07/2002 to 31/7/2012. Criteria that suggest DSD include 1. overt genital ambiguity (eg, cloacal exstrophy) 2. apparent female genitalia with an enlarged clitoris, posterior labial fusion, or an inguinal/labial mass 3. apparent male genitalia with bilateral undescended testes, micropenis, isolated perineal...

2016
Emilie K. Johnson Courtney Finlayson

Gender and sex diverse individuals-transgender individuals and those with disorders of sex development (DSD)-both face medical treatments that may impair biological fertility potential. Young DSD patients also often have abnormal gonadal development. Fertility preservation for these populations has historically been poorly understood and rarely addressed. Future fertility should be discussed wi...

Journal: :Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015
G N Holmbeck C L Aspinall

The purpose of this review is to discuss research methods and clinical management strategies employed with other conditions (i. e., spina bifida and craniofacial conditions) and how these methods and strategies could be applied to youth with disorders of sex development (DSD). The review focuses specifically on the potential overlap between DSD and these other conditions across the following 3 ...

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