Katherine Kutney,Laura Konczal,Beth Kaminski et al.
Katherine Kutney et al.
Disorders of sex development (DSD) represent a spectrum of uncommon but very complex disorders with medical, psychosexual, and family implications for those affected by them. The diagnosis and management of these disorders requires a coordi...
Why boys will be boys and girls will be girls: Human sex development and its defects [0.03%]
为何男孩就是男孩，女孩就是女孩：人类性别发育及其缺陷
Wassim Eid,Anna Biason-Lauber
Wassim Eid
Among the most defining events of an individual's life, is the development of a human embryo into male or a female. The phenotypic sex of an individual depends on the type of gonad that develops in the embryo, a process which itself is dete...
Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery [0.03%]
性发育障碍的回顾：基因组学在诊断和基因发现中的作用日益重要
Brittany Croft,Katie Ayers,Andrew Sinclair et al.
Brittany Croft et al.
Disorders of Sex Development (DSDs) are a major paediatric concern and are estimated to occur in around 1.7% of all live births (Fausto-Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality, Basic Books, New York, 200...
Annastasia Ediati,Nani Maharani,Agustini Utari
Annastasia Ediati
Disorders of sex development (DSD) is a congenital condition in which the development of chromosomes, gonads, hormones, and reproductive structures are atypical. DSD brings with it a psychological impact on the affected individual and their...
Michiko Watanabe,Naveen Uli
Michiko Watanabe
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [0.03%]
NR5A1基因变异的临床表型多样性：46,XY和46,XX个体研究
Sorahia Domenice,Aline Zamboni Machado,Frederico Moraes Ferreira et al.
Sorahia Domenice et al.
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal develo...
Sezgin Ozgur Gunes,Asli Metin Mahmutoglu,Ashok Agarwal
Sezgin Ozgur Gunes
Sex determination is a complex and dynamic process with multiple genetic and environmental causes, in which germ and somatic cells receive various sex-specific features. During the fifth week of fetal life, the bipotential embryonic gonad s...
Multiple exposures to environmental pollutants and oxidative stress: Is there a sex specific risk of developmental complications for fetuses? [0.03%]
环境污染物多次暴露与氧化应激：胎儿发育并发症的性别特异性风险存在吗？
Kaïs H Al-Gubory
Kaïs H Al-Gubory
Medically assisted procreation significantly contributes to an increase in twin pregnancies. One of the major factors contributing to more twin births is the use of fertility treatments. Twin pregnancy is not without a risk for fetal organ ...
Gavino Faa,Mirko Manchia,Roberta Pintus et al.
Gavino Faa et al.
Starting from the Developmental Origins of Health and Disease (DOHaD) hypotheses proposed by David Barker, namely fetal programming, in the past years, there is a growing evidence of the major role played by epigenetic factors during the in...
Prenatal exposure to environmental factors and congenital limb defects [0.03%]
环境因素与先天性肢体畸形出生缺陷的关系研究
Peter G Alexander,Karen L Clark,Rocky S Tuan
Peter G Alexander
Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized ...