Results 21 to 30 of about 366,783 (273)

Psychiatric Approach Management of Ambiguous Genitalia in Children and Teenagers

open access: yesJurnal Psikiatri Surabaya, 2023
Introductions: Ambiguous genitalia is a congenital disorder defined by atypical development at the chromosomal, gonadal, or anatomical levels of the sex organ. The incidence of ambiguous genitalia is estimated to be 1 in 4500-5500 births.
Popy Arizona   +2 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

The External Genitalia Score (EGS): A European multicenter validation study. [PDF]

open access: yes, 2019
CONTEXT Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. OBJECTIVES To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 ...
Ahmed, S Faisal   +35 more
core   +3 more sources

Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B

open access: yesFrontiers in Endocrinology, 2023
BackgroundDifferences of sex development (DSD) are congenital conditions linked to atypical development of chromosomal, gonadal, or anatomical sex.ObjectiveThe aim of this study was to demonstrate our experiences at the Diabetes Endocrine and Metabolism ...
Shereen Abdelghaffar   +4 more
doaj   +1 more source

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