GENERIC 46, XY Disorders of Sex Development
Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology
Disorders of sexual development (DSDs), formerly termed intersex conditions, are among the most fascinating conditions ... XY DSD or sex chromosome DSD if there is mosaicism (45,X/46,XY). These conditions represent a spectrum of disorders in which ... encoded search term (Differences (Disorders) of Sex Development (DSDs)) and Differences (Disorders) of Sex Development (DSDs) ... Phenotypic sex determination begins with genetic sex and follows a logical cascade: Chromosomal sex determines gonadal sex, ...
A novel c.64G | T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report | BMC...
XY disorders of sex development (DSD) face additional medical and psychological challenges. To optimize management and minimize ... XY DSD. The subsequent targeting specific disease‐causing genes, comprising 360 endocrine disease-causing genes, was employed ... on the functional integrity of the NR5A1 protein resulting in serious impairment of its modulation of gonadal development. This ... History, examinations, and assistant examinations were available for clinical diagnosis of 46, ...
Disorders of sex development - Wikipedia
XY; sex chromosome; XX, sex reversal; ovotesticular disorder; and XY, sex reversal. DSDs are medical conditions encompassing ... Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in ... "Disorders of Sex Development". Organisation Intersex International Australia. "Why Not "Disorders of Sex Development"?". UK ... Beh H, Diamond M (2006). "Variations of Sex Development Instead of Disorders of Sex Development". Archives of Disease in ...
Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development<...
XY disorders of sex development. Together they form a unique fingerprint. * 46,XY Disorders of Sex Development Medicine & Life ... XY disorders of sex development. Birgit Köhler*, H. Biebermann, V. Friedsam, J. Gellermann, R. F. Maier, M. Pohl, P. Wieacker, ... XY disorders of sex development. In: Journal of Clinical Endocrinology and Metabolism. 2011 ; Vol. 96, No. 7. pp. E1131-E1136. ... XY disorders of sex development. Journal of Clinical Endocrinology and Metabolism. 2011 Jul 1;96(7):E1131-E1136. doi: 10.1210/ ...
MedlinePlus: Genetic Conditions: 0-9
XY disorder of sex development due to LH defects, see Leydig cell hypoplasia ... XX disorder of sex development (DSD) due to placental aromatase deficiency, see Aromatase deficiency ... XX testicular disorder of sex development, see 46,XX testicular difference of sex development ... 2q23.1 microdeletion syndrome, see MBD5-associated neurodevelopmental disorder. *2q23.1 microduplication syndrome, see MBD5- ...
46,XY sex reversal 5 Disease Ontology Browser - DOID:0111776
XY sex reversal, CBX2-related; disorder of sex development, 46,XY, CBX2-related; sex reversal, XY, CBX2-related; SRXY5 ... XY sex reversal, CBX2-related; disorder of sex development, 46,XY, CBX2-related; sex reversal, XY, CBX2-related; SRXY5 Alt IDs: ... XY sex reversal 5 (DOID:0111776) Alliance: disease page Synonyms: 46,XY gonadal dysgenesis, complete, CBX2-related; 46, ... Definition: A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop ...
Luteinizing Hormone: Reference Range, Interpretation, Collection and Panels
Reproductive and Developmental Endocrinology | 0090 | ECE2023 | 25th European Congress of Endocrinology | Endocrine Abstracts
Androgen insensitivity resulting in a disorder of gonadal development 46XY. El Moatamid Kaoutar , Dounia Talbi , Mohamed Ali ... Introduction: DSD is a group of disorders by which there is discrepancy between genomic sex and phenotypical sex. Most of cases ... XY male karyotype. This syndrome is very rare with an estimated prevalence of 1 case/20.000 males. Here we decribe a case of a ... An Intellectual Development Disorder Revealing A Rare Variant of the Klinefelter Syndrome 48, XXXY: A Case Report. Amira Ikram ...
Androgen Insensitivity Syndrome: Practice Essentials, Pathophysiology, Epidemiology
XY Disorders of Sex Development. J Clin Endocrinol Metab. 2016 Dec. 101 (12):4532-4540. [QxMD MEDLINE Link]. ... XY disorders of sex development. J Pediatr Endocrinol Metab. 2015 Jul 21. [QxMD MEDLINE Link]. ... Malignancy in disorders of sex development. Transl Androl Urol. 2016 Oct. 5 (5):794-798. [QxMD MEDLINE Link]. [Full Text]. ... Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry. J Clin Endocrinol Metab. 2014 Feb. 99(2): ...
JCI - Testicular differentiation factor SF-1 is required for human spleen development
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. PLoS One. 2011;6(3):e17751. ... XY complete sex reversal and asplenia, but without AI. This mutation impaired SF-1 activation of the spleen development gene ... Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev. 2008;2(4-5):200-209.. View this ... Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals ...
Clitoromegaly: What Is It, Causes, Signs & Treatment
Other causes of congenital enlargement of the clit include a wide array of disorders of sex development (DSDs). ... XY.. Clitoromegaly may also occur later in life for a number of reasons, such as hormonal imbalances caused by polycystic ovary ... While it can be caused by medical conditions or disorders, hormonal shifts, or medication, there is generally nothing harmful ... Join our weekly newsletter and get the latest thought-provoking bold research and fearless conversations about sex - plus ...
Table of Content V21N6 | HKMJ
45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study ... XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to ... Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One ... One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding ...
Loss of Function Mutation in the ... | Archive ouverte UNIGE
XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling. In: PLOS genetics, 2014, vol. 10, n° ... XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense ... XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling. ... HHAT was found to be expressed in the somatic cells of both XX and XY gonads at the time of sex determination, and Hhat loss of ...
CYTAG® CGH Labeling kit - ENZ-42671 - Enzo Life Sciences
56, 661 (2013), Application(s): Blood from patients with disorder of sex development, Abstract; ... XY gonadal dysgenesis identified by a customized 1 M array-CGH platform: A. Norling, et al.; Eur. J. Med. Genet. ... Germline rates of de novo meiotic deletions and duplications causing several genomic disorders: D.J. Tuner, et al.; Nat. Genet ... Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders: M. Tropeano, et al.; PLoS One 8 ...
Miguel Carrera Troyano - Google Scholar
XY disorder of sex development. L Aud , M Fern ndez-Cancio, A Carrascosa, P Andaluz, N Tor n, C Pir , ... ... Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46, ... androgen receptor gene mutations in a series of 59 patients with a 46 …. L Audi, M Fern ndez-Cancio, A Carrascosa, P Andaluz, N ...
Hirsutism: Causes, Symptoms, and Treatment | Doctor | Patient
XY Disorders of Sex Development due to NR5A1 Gene Mutation. Sex Dev. 20159(5):260-8. doi: 10.1159/000442309. Epub 2015 Dec 18. ... XY chromosomal disorders can cause hirsutism at puberty with primary amenorrhoea and clitoromegaly[6] . ... Hirsutism is a common disorder affecting between 5% and 10% of women of reproductive age.[4] ... Is a diagnosis of exclusion and thought to be related to disorders in peripheral androgen activity. ...
RePub, Erasmus University Repository:
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation...
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of ... Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal ... XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found ... XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation ...
Hans Clevers - Research output - Royal Netherlands Academy of Arts and Sciences (KNAW)
XY Disorders of Sex Development 60% * Exome 47% 52 Citations (Scopus) ... Sasaki, N. & Clevers, H., Oct 2018, In: Current Opinion in Genetics & Development. 52, p. 117-122 6 p.. Research output: ... X-Y., Huen, M. S. Y. & Ma, S., 16 Oct 2018, In: Cell Reports. 25, 3, p. 690-701.e8. Research output: Contribution to journal/ ... ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling. Harris, A., Siggers, P., Corrochano, S., ...
HuGE Navigator|Genopedia|PHGKB
Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype | Frelich |...
Disorders of sex development. In: Melmed S, Polonsky KS, Reed Larsen P, Kronenberg HM, eds. Williams Textbook of Endocrinology ... XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and ... Puberty: Ontogeny, Neuroendocrinology, Physiology, and Disorders. In: Melmed S, Polonsky KS, Reed Larsen P, Kronenberg HM, eds ... XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic ...
Ronald de Krijger - Onderzoeksoutput - Prinses Máxima Centrum
Etiologic Evaluation of Male Pseudohermaphroditism in Infancy and Childhood<...
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients<...
Disorders of Sex Development Medicine & Life Sciences 100% * Histology Medicine & Life Sciences 82% ... develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that ... develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that ... develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that ...
Search | Preprints.org
Androgen insensitivity syndrome (AIS) is the most common disorder of sex development in people with karyotype 46,XY. Mutations ... XY karyotype, SRY-positive and clinical features of AIS (2 - CAIS, 2 - PAIS). Serum levels of T, LH, and FSH were quantified by ... Hereditary hemochromatosis (HH) is an inherited iron metabolism disorder. It is caused by an autosomal recessive disorder ... were enriched in development-related pathways and the development of the neocortex, and cerebellar cortex, suggesting their ...
Pao-Lin Kuo - 研究成果 - 國立成功大學
XY Disorders of Sex Development 91% * Gonadal Dysgenesis 88% * Gonads 46% ... Does sex matter? Association of fetal sex and parental age with pregnancy outcomes in Taiwan: A cohort study. Yu, T., Chen, T. ... Childhood neurodevelopmental disorders and maternal hypertensive disorder of pregnancy. Chen, K. R., Yu, T., Kang, L., Lien, Y ... Paternal and maternal psychiatric disorders associated with offspring autism spectrum disorders: A case-control study. Yu, T., ...
Keio University - Research output - Keio University
XY Gonadal Dysgenesis 100% * Disorders of Sex Development 40% * Gonads 34% ... Acceleration of the Development of Microcirculation Embolism in the Brain due to Capillary Narrowing. Murata, J., Unekawa, M., ... A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant. Arai, H., Noguchi, A., Shina, K., Otaka, S., ... Akabayashi, H., Taguchi, S. & Zvedelikova, M., 2023 Jan, In: International Journal of Educational Development. 96, 102687.. ...
Disorders of Sex Development | Harrison's Principles of Internal Medicine, 20e | AccessMedicine | McGraw Hill Medical
XY DSD (see Table 383-3). 46,XX DSD (see Table 383-4). ... Chapter 383: Disorders of Sex Development John C. Achermann; J ... Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. DHT, ... The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination ... TABLE 383-1 Classification of Disorders of Sex Development (DSDs) Sex Chromosome DSD. 46, ...
Disorders of Sex Development | Harrison's Endocrinology, 4e | AccessBiomedical Science | McGraw Hill Medical
XY DSD (SEE TABLE 10-3). 46,XX DSD (SEE TABLE 10-4). ... Chapter 10: Disorders of Sex Development John C. Achermann; J. ... Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. DHT, ... The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination ... TABLE 10-1 Classification of Disorders of Sex Development (DSDs) SEX CHROMOSOME DSD. 46, ...