46, XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility …
MR Stancampiano, SLC Meroni, C Bucolo… - Frontiers in …, 2024 - frontiersin.org
The term 'differences of sex development'(DSD) refers to a group of congenital conditions
that are associated with atypical development of chromosomal, gonadal, and/or anatomical …
that are associated with atypical development of chromosomal, gonadal, and/or anatomical …
Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features
G Luppino, M Wasniewska, R Coco, G Pepe… - Current Issues in …, 2024 - mdpi.com
Disorders/differences of sex development (DSDs) are defined as broad, heterogenous
groups of congenital conditions characterized by atypical development of genetic, gonadal …
groups of congenital conditions characterized by atypical development of genetic, gonadal …
A novel missense mutation of NR5A1 c. 46T> C (p. C16R) in a Chinese infant with ambiguous genitalia
D Zhang, Y Xin, MY Li, LZ Meng… - Asian Journal of …, 2022 - journals.lww.com
Figure 1:(a) A summary approach to diagnosis of the baby with ambiguous genitalia.(b) CNV-
seq analysis showed that it was 46, XY, and no chromosome aneuploidy and genome copy …
seq analysis showed that it was 46, XY, and no chromosome aneuploidy and genome copy …
Laparoscopy versus ultrasonography for the evaluation of Müllerian duct remnants in male patients with disorder of sex differentiation
Background The diagnosis of male differences of sex development is a challenging
multidisciplinary team task, that requires external genital evaluation, karyotyping, hormonal …
multidisciplinary team task, that requires external genital evaluation, karyotyping, hormonal …
Embryologie, fetale Entwicklung und ihre Varianten des weiblichen Urogenitaltrakts und der weiblichen Brust
E Eppler - Die Gynäkologie, 2023 - Springer
Dieses Kapitel möchte das Verständnis für die weibliche Anatomie und Genitalentwicklung
fördern. Ausgehend von Keimzellen und indifferenter Gonadenanlage werden Entwicklung …
fördern. Ausgehend von Keimzellen und indifferenter Gonadenanlage werden Entwicklung …
Unraveling a case of 46, XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49
A Garcia, M Legendre, S Chantot-Bastaraud… - Annales d' …, 2023 - Elsevier
ß Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an enzyme transforming Delta 4
androstenedione into testosterone. It is involved in the early development of the male genital …
androstenedione into testosterone. It is involved in the early development of the male genital …
Dysgerminoma in a Patient with 46, XY Karyotype and Pure Gonadal Dysgenesis (Swyer Syndrome); a Case Report and Literature Review
M Akbari Oryani, M Shahraki… - Journal of Obstetrics …, 2023 - jogcr.com
Disorders of sex development (DSD) result from intrauterine defects in sex discrimination.
The clinical phenotype differs based on the disease type. Cases with ambiguous external …
The clinical phenotype differs based on the disease type. Cases with ambiguous external …
Gangguan Perkembangan Seksual 46, XY: Sebuah Laporan Kasus dan Tinjauan Pustaka
T Welni, F Fakhrurrazi - Journal Of The Indonesian Medical …, 2023 - mki-ojs.idionline.org
Introduction: Disorder of sex development (DSD) is a condition characterized by atypical
anatomy of the reproductive organs, making it difficult to clearly identify the genitalia. DSD …
anatomy of the reproductive organs, making it difficult to clearly identify the genitalia. DSD …
Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study
M Ordooei, A Amouei, SR Mirjalili… - World Journal of …, 2022 - publish.kne-publishing.com
Background: Disorder of sex development (DSD) is one of the most serious problems
encountered at birth. DSD is a heterogeneous group of rare conditions wherein …
encountered at birth. DSD is a heterogeneous group of rare conditions wherein …