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46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches

Hormone and Metabolic Research
Congenital adrenal hyperplasia (CAH) is a rare disorder with autosomal recessive inheritance; it was historically known as adrenogenital syndrome. Patients with virilizing forms of CAH and a 46,XX karyotype present with varied degrees of hyperandrogenism
Manjiri Karlekar   +6 more
semanticscholar   +3 more sources

Learning to assist women born with atypical genitalia: journey through ignorance, taboo and dilemma

Journal of Reproductive and Infant Psychology, 2003
This aim of this article is to increase awareness of the psychological aspects of a range of conditions associated with atypical development of the reproductive-genital system. In highlighting some of clients’ experiences with how atypical genitalia is managed, useful parallels can be drawn for other services.
L. Liao
exaly   +3 more sources

Experiences and psychological issues affecting parents of children born with atypical genitalia in India

Journal of Pediatric Endocrinology and Metabolism
Objectives Parents of children with differences of sex development (DSD) are known to suffer from psychological distress at the time of diagnosis and thereafter.
Tanvi Bindal   +3 more
semanticscholar   +3 more sources

Atypical presentation of monkeypox with verrucous lesions on the face and genitalia in a patient with human immunodeficiency virus (HIV)

International Journal of Dermatology, 2023
We present the case of 25-year-old man with a history of multiple sexually transmitted infections and human immunodeficiency virus (HIV) since 2017. He had poor adherence to his treatment with Bictarvy , his viral load at the time of the admission was 88,
J. González-Torres   +4 more
semanticscholar   +3 more sources

Prenatal detection of atypical genitalia: Remember KAT6B disorders.

European Journal of Obstetrics & Gynecology and Reproductive Biology, 2022
Yong-Shan Chen   +4 more
semanticscholar   +3 more sources

Case report and literature review: A 46, XX infant with atypical genitalia diagnosed with primary ovarian insufficiency (POI) caused by HFM1 gene variants.

Endocrine Abstracts
INTRODUCTION Primary Ovarian Insufficiency (POI) due to single gene variant is classified as a 46,XX difference of sexual development. Variants in the Helicase Family Member 1 (HFM1) gene are associated with POI in females and non-obstructive azoospermia
Zheng Yuan   +4 more
semanticscholar   +3 more sources

Atypical genitalia in the newborn

2023
Jonathan Meyer, Ahmed Khattab
exaly   +2 more sources

Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

Yearbook of Paediatric Endocrinology, 2023
Elias Fm   +9 more
semanticscholar   +2 more sources

Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

Ultrasound in Obstetrics & Gynecology, 2023
´. L. ´. Soto   +8 more
semanticscholar   +3 more sources

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