Results 231 to 240 of about 366,783 (273)
Functional Validation of a Novel <italic>PBX1</italic> Missense Variant in a 46,XY Girl.
Sex DevTsai MC +5 more
europepmc +1 more source
Recognition and assessment of atypical and ambiguous genitalia in the newborn
Archives of Disease in Childhood, 2017 The baby with atypical or ambiguous genitalia is usually born in secondary care. For most clinicians, this is an unfamiliar and challenging scenario with the potential for life-long ramifications arising from a consultation led by an unprepared clinician.
Justin H Davies, Tim Cheetham
exaly +6 more sources
The Neonate with Atypical Genitalia
, 2020 This chapter summarises the usual development of the urogenital system from which we can derive a series of simple rules for clinical diagnosis of a baby with DSD. We then describe a clinical approach to a baby with atypical genitalia using these rules to make a preliminary diagnosis, and supplemented with medical imaging, endoscopy or laparoscopy to ...
Aurore Bouty +2 more
exaly +4 more sources
Restoring normal anatomy in female patients with atypical genitalia
Seminars in Perinatology, 2017 Female patients with congenital adrenal hyperplasia (CAH) have varying degrees of atypical genitalia secondary to prenatal and postnatal androgen exposure. Surgical treatment is focused on restoring normal genitalia anatomy by bringing the vagina to the normal position on the perineum, separating the distal vagina from the urethra, forming a normal ...
Laurence S Baskin
exaly +5 more sources
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Genetic counseling in atypical genitalia: Challenges and proposed communication approach
Wadia Journal of Women and Child HealthAtypical genitalia (AG) is a rare condition in which a child’s external genitals are not properly distinguished. The genitals can be seen as incompletely developed or have both male and female internal and/or external genital structures.
Shailesh Pande +2 more
exaly +3 more sources
One microliter of blood for SRY testing in a neonate with atypical genitalia
Pediatrics International, 2022Yasuaki Mizuno, , Kazuhiro Shimura
exaly +4 more sources
Atypical/Ambiguous/Non-binary Genitalia
, 2020 Atypical/ambiguous genitalia refers to any variation from “typical” phenotypic male or female genital appearance. It encompasses a spectrum from isolated hypospadias or clitoromegaly to significant variations from typical in which sex assignment is in question.
Seth Tobolsky, T. Stanley
semanticscholar +3 more sources
ATYPICAL GENITALIA IN SILVER-RUSSELL SYNDROME
Journal of the ASEAN Federation of Endocrine SocietiesINTRODUCTIONSilver-Russell Syndrome (SRS) is a clinically heterogeneous disorder which is often associated with growth restriction. Genital abnormalities can be present but are not part of the diagnostic criteria.
Hazirah Hidayat +3 more
semanticscholar +2 more sources