Cargando…

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to undervirilization in 46,XY individuals, due to an impairment of this conversion in genital tissues. Molecular analysis in the steroid 5α-reductase type II ge...

Descripción completa

Detalles Bibliográficos
Autores principales:	de Calais, Flávia Leme, Soardi, Fernanda Caroline, Petroli, Reginaldo José, Lusa, Ana Letícia Gori, de Paiva e Silva, Roberto Benedito, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil, de Mello, Maricilda Palandi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Diversity Preservation International (MDPI) 2011
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257141/ https://www.ncbi.nlm.nih.gov/pubmed/22272144 http://dx.doi.org/10.3390/ijms12129471

Ejemplares similares

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
por: Fabbri, Helena Campos, et al.
Publicado: (2014)

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency
por: Veiga-Junior, Nélio Neves, et al.
Publicado: (2012)

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
por: dos Santos, Ana Paula, et al.
Publicado: (2013)

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family
por: Petroli, Reginaldo J, et al.
Publicado: (2011)

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males
por: Gabriel Ribeiro de Andrade, Juliana, et al.
Publicado: (2014)

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development
por: Oliveira, Letícia Ribeiro, et al.
Publicado: (2020)

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
por: de Oliveira, Felipe Rodrigues, et al.
Publicado: (2023)

A study of splicing mutations in disorders of sex development
por: de Calais, Flavia Leme, et al.
Publicado: (2017)

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study
por: Guaragna-Filho, Guilherme, et al.
Publicado: (2022)

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study
por: Riccetto, Luísa, et al.
Publicado: (2022)

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity
por: de Omena Filho, Reinaldo Luna, et al.
Publicado: (2022)

SUN-086 Pilot Study Using Aromatase Inhibitor in Puberty of Boys With Partial Androgen Insensitivity: Report of Three Cases
por: Maciel-Guerra, Andrea Trevas, et al.
Publicado: (2020)

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
por: Francese-Santos, Ana Paula, et al.
Publicado: (2022)

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency
por: Coeli, Fernanda B, et al.
Publicado: (2010)

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects
por: de Paula Michelatto, Débora, et al.
Publicado: (2016)

Female with 46, XY karyotype
por: Jung, Eun Jung, et al.
Publicado: (2017)

Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
por: Putri Susilo, Artha Falentin, et al.
Publicado: (2022)

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development
por: Igarashi, Maki, et al.
Publicado: (2020)

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development
por: Wei, Jia, et al.
Publicado: (2022)

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
por: Marsudi, Bagas A., et al.
Publicado: (2018)

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
por: De Groote, Katya, et al.
Publicado: (2013)

“Congruency the ART of Being Real” - 46XY DSD Due to 5 α Reductase Deficiency - Challenges in Decision Making
por: Subbiah, Sridhar, et al.
Publicado: (2021)

5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family
por: Noroozi Asl, Samaneh, et al.
Publicado: (2023)

MON-056 Rare X Chromosome Pericentric Inversion Associated with Ovotesticular Disorder of Sex Development
por: Guerra-Junior, Gil, et al.
Publicado: (2020)

A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins
por: Esquiaveto-Aun, Adriana Mangue, et al.
Publicado: (2015)

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
por: Nomura, Risa, et al.
Publicado: (2015)

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals
por: Domenice, Sorahia, et al.
Publicado: (2016)

Acne in Klinefelter Syndrome-46XY/47XXY Mosaicism?
por: Lakshmi, Chembolli, et al.
Publicado: (2015)

Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
por: Rasouli, Melody, et al.
Publicado: (2019)

Behavioural Problems in Children with 46XY Disorders of Sex Development
por: M. Selveindran, Nalini, et al.
Publicado: (2017)

NPHS2 Mutations: A Closer Look to Latin American Countries
por: Guaragna, Mara Sanches, et al.
Publicado: (2017)

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing
por: De Paula, Georgette Beatriz, et al.
Publicado: (2016)

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
por: McElreavey, Ken, et al.
Publicado: (2019)

Bilateral Gonadal Dysgerminoma in a Phenotypic Female With 46,XY Disorder of Sexual Development: A Case Report
por: Pasquini Neto, Ricardo, et al.
Publicado: (2023)

Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review
por: Barros, Beatriz Amstalden, et al.
Publicado: (2021)

THU185 Molecular Etiologic Spectrum Of Patients With 46,XY And 46,XX Disorders Of Sex Development
por: Kim, Ja Hye, et al.
Publicado: (2023)

A rare case report of 46XY mixed gonadal dysgenesis
por: Arora, Rakesh, et al.
Publicado: (2013)

46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
por: DU, XUE, et al.
Publicado: (2014)

Clinical, hormonal and radiological profile of 46XY disorders of sexual development
por: Vasundhera, Chauhan, et al.
Publicado: (2016)

46,XY ovotesticular disorders of sex development: A therapeutic challenge
por: Scarpa, Maria-Grazia, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_mtu7m9nv7j85796r51bom65og4