Results 31 to 40 of about 9,016 (186)
Quality of life of patients with 46,
Clinical Endocrinology, 2014 SummaryDisorders of sex development (DSD) result from abnormalities in the complex process of sex determination and differentiation. An important consideration to guide the assignment of social sex in newborns with ambiguous genitalia is the quality of life (QoL) of these patients in adulthood.
Rita Cassia, Amaral +9 more
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BMC Medical Genomics, 2022 Background 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males show overexpression of pro-testis
Jiansheng Wei +5 more
doaj +1 more source
Towards a virtual research environment for paediatric endocrinology across Europe [PDF]
, 2009 Paediatric endocrinology is a medical specialty dealing with variations of physical growth and sexual development in childhood. Genetic anomalies that can cause disorders of sexual development in children are rare.
Jiang, J. +14 more
core +1 more source
46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma
Medicine, 2020 Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon.We report a case of a 36-year-old phenotypical male with a chief complaint of an ...
Li, Zixiang +5 more
openaire +2 more sources
Birth Weight in Different Etiologies of Disorders of Sex Development [PDF]
, 2017 Context: It is well established that boys are heavier than girls at birth. Although the cause of birth weight (BW) difference is unknown, it has been proposed that it could be generated from prenatal androgen action.
GÜRAN, TÜLAY
core +2 more sources
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals [PDF]
, 2012 Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal ...
Muñoz, M. T. +17 more
core +1 more source
JCRPE, 2019 Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia.
Fatma Dursun, Serdar Ceylaner
doaj +1 more source
Advances in Laboratory Medicine, 2021 The development of female or male sex characteristics occurs during fetal life, when the genetic, gonadal, and internal and external genital sex is determined (female or male). Any discordance among sex determination and differentiation stages results in
Granada Maria Luisa, Audí Laura
doaj +1 more source
Human Molecular Genetics, 2019 AbstractDisorders of sex development (DSDs) are defined as congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In many DSD cases, genetic causes remain to be elucidated. Here, we performed a case–control exome sequencing study comparing gene-based burdens of rare damaging variants between 26 DSD cases and 2625 controls ...
Kohei, Hamanaka +22 more
openaire +2 more sources
International Journal of Endocrinology, 2016 Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center.
Georgette Beatriz De Paula +21 more
doaj +1 more source