Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential
Diagnosis and management of individuals who have differences of sex development (DSD)
due to numerical or structural variations of sex chromosomes (NSVSC) remains challenging …
due to numerical or structural variations of sex chromosomes (NSVSC) remains challenging …
Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45, X …
D Karila, B Donadille, J Léger… - European Journal of …, 2022 - academic.oup.com
Introduction A gonadectomy is currently recommended in patients with Turner syndrome
(TS) and a 45, X/46, XY karyotype, due to a potential risk of gonadoblastoma (GB). However …
(TS) and a 45, X/46, XY karyotype, due to a potential risk of gonadoblastoma (GB). However …
[HTML][HTML] Incidence, prevalence, age at diagnosis, and mortality in individuals with 45, X/46, XY mosaicism: a population-based registry study
K Stochholm, C Holmgård, SM Davis, CH Gravholt… - Genetics in …, 2024 - Elsevier
Purpose To assess the population-based incidence, prevalence, and age at diagnosis of
individuals with 45, X/46, XY mosaicism (and associated variants) and describe the …
individuals with 45, X/46, XY mosaicism (and associated variants) and describe the …
Clinical but not histological outcomes in males with 45, X/46, XY mosaicism vary depending on reason for diagnosis
ML Ljubicic, A Jørgensen, C Acerini… - The Journal of …, 2019 - academic.oup.com
Context Larger studies on outcomes in males with 45, X/46, XY mosaicism are rare.
Objective To compare health outcomes in males with 45, X/46, XY diagnosed as a result of …
Objective To compare health outcomes in males with 45, X/46, XY diagnosed as a result of …
Perinatal genetics
Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise,
practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade …
practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade …
Peptide hormone analysis in diagnosis and treatment of differences of sex development: joint position paper of EU COST Action 'DSDnet'and European Reference …
TH Johannsen, AM Andersson… - European Journal of …, 2020 - academic.oup.com
Abstract Differences of Sex Development (DSD) comprise a variety of congenital conditions
characterized by atypical chromosomal, gonadal, or anatomical sex. Diagnosis and …
characterized by atypical chromosomal, gonadal, or anatomical sex. Diagnosis and …
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype
Individuals mosaic for monosomy X and a cell line with Y chromosome material can have
genitalia that appear phenotypical female, male, or ambiguous. Those with this karyotype …
genitalia that appear phenotypical female, male, or ambiguous. Those with this karyotype …
Ambiguous genitalia
SF Witchel, PA Lee - Sperling Pediatric Endocrinology, 2021 - Elsevier
Disorders of sex development (DSDs) comprise a spectrum of disorders in which
chromosomal, genetic, gonadal, hormonal, or anatomic aspects of sex are atypical …
chromosomal, genetic, gonadal, hormonal, or anatomic aspects of sex are atypical …
Morbidity in males with 45, X/46, XY resembles the morbidity pattern in Turner syndrome: a national population-based study
A Berglund, CH Gravholt… - The Journal of Clinical …, 2025 - academic.oup.com
Context Few studies have reported on males with 45, X/46, XY mosaicism. Most studies
stem from pediatric settings and knowledge of natural history and long-term health outcomes …
stem from pediatric settings and knowledge of natural history and long-term health outcomes …
Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism
Objective To evaluate the growth data, gonadal functions and tumour risk in children with 45,
X/46, XY mosaicism. Design We reviewed retrospectively the records of 45 patients with 45 …
X/46, XY mosaicism. Design We reviewed retrospectively the records of 45 patients with 45 …