Cargando…

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus unde...

Descripción completa

Detalles Bibliográficos
Autores principales:	Riccetto, Luísa, Vieira, Tarsis Paiva, Viguetti-Campos, Nilma Lucia, Mazzola, Tais Nitsch, Guaragna, Mara Sanches, Fabbri-Scallet, Helena, de Mello, Maricilda Palandi, Marques-de-Faria, Antonia Paula, Maciel-Guerra, Andrea Trevas, Guerra, Gil
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Associação Paulista de Medicina - APM 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065101/ https://www.ncbi.nlm.nih.gov/pubmed/36449967 http://dx.doi.org/10.1590/1516-3180.2022.0281.R1.30082022

Ejemplares similares

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

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)

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

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service()()
por: Beck, Mayra de Souza El, et al.
Publicado: (2019)

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)

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)

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

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)

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)

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

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

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)

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
por: de Calais, Flávia Leme, et al.
Publicado: (2011)

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 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)

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)

NPHS2 mutations account for only 15 % of nephrotic syndrome cases
por: Guaragna, Mara Sanches, et al.
Publicado: (2015)

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability
por: Nascimento, Carolina Gama, et al.
Publicado: (2023)

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)

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)

Undefining life's biochemistry: implications for abiogenesis
por: Freeland, Stephen
Publicado: (2022)

Undefined cellulase formulations hinder scientific reproducibility
por: Himmel, Michael E., et al.
Publicado: (2017)

Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents
por: Della Torre, Osmar Henrique, et al.
Publicado: (2018)

FSH may be a useful tool to allow early diagnosis of Turner syndrome
por: Carpini, Stela, et al.
Publicado: (2018)

Is the plantaris muscle the most undefined human skeletal muscle?
por: Kurtys, K., et al.
Publicado: (2020)

Biopsy histopathology in herpes simplex encephalitis and in encephalitis of undefined etiology.
por: Booss, J., et al.
Publicado: (1984)

Morgellons disease, illuminating an undefined illness: a case series
por: Harvey, William T, et al.
Publicado: (2009)

Detection of mcr-1 Gene in Undefined Vibrio Species Isolated from Clams
por: Valdez, Christian, et al.
Publicado: (2022)

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

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

Undefined and fatal meningoenchephalitis in a patient with combined immune deficiency: a case report
por: Boufleur, Karla, et al.
Publicado: (2015)

Novel Algorithms Reveal Streptococcal Transcriptomes and Clues about Undefined Genes
por: Ryan, Patricia A, et al.
Publicado: (2007)

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children
por: Terracciano, Alessandra, et al.
Publicado: (2012)

Mast cell leukemia associated with undefined morphology and chronic basophilic leukemia
por: Cehreli, Cavit, et al.
Publicado: (2014)

Functional implications of the microbial community structure of undefined mesophilic starter cultures
por: Smid, Eddy J, et al.
Publicado: (2014)

Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes
por: Dobbins, Sara E., et al.
Publicado: (2016)

The Potential of a Thick Present through Undefined Causality and Non-Locality
por: Capurso, Alessandro
Publicado: (2022)

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization
por: Silva-Grecco, Roseane Lopes da, et al.
Publicado: (2015)

Estimation of Cardiovascular Disease Risk Factors in the Undefined Participants of Campaign in Isfahan in 2017
por: Bemanalizadeh, Maryam, et al.
Publicado: (2021)

Interstitial Lung Disease in Children: “Specific Conditions of Undefined Etiology” Becoming Clearer
por: Presti, Santiago, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_i99gi4hgiul5spqlv5baoia7r4