Cargando…

Mutational Analysis of Androgen Receptor (AR) Gene in 46,XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion: Endocrinological Characteristics of Three Patients with AR Gene Mutations

The prevalence of abnormalities in androgen receptor gene (AR) among patients with ambiguous genitalia is unknown. Moreover, endocrinological data from prepubertal patients with AR mutation are very limited. Thus, the aim of this study was to examine the prevalence of abnormalities in AR among patie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Miyamoto, Junko, Asanuma, Hiroshi, Nakai, Hideo, Hasegawa, Tomonobu, Nawata, Hajime, Hasegawa, Yukihiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2006
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004867/ https://www.ncbi.nlm.nih.gov/pubmed/24790336 http://dx.doi.org/10.1297/cpe.15.151

Ejemplares similares

Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia
por: Sato, Takeshi, et al.
Publicado: (2021)

Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD
por: Akcan, Neşe, et al.
Publicado: (2022)

Decay of $^{46}$Ar
por: Huck, A, et al.
Publicado: (1978)

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene
por: Marino, Laura, et al.
Publicado: (2021)

Levels in 45K and 46K excited by the β decay of 45Ar and 46Ar
por: Huck, A, et al.
Publicado: (1980)

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism
por: Takahashi, Ken, et al.
Publicado: (2020)

The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia
por: Lee, Kuei-Fang, et al.
Publicado: (2012)

Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia
por: Al Jabri, Aida, et al.
Publicado: (2021)

Determination of $^{44}Ar$(n,$\gamma$)$^{45}$Ar, and $^{46}$Ar(n,$\gamma$)$^{47}$Ar reaction rates by (d,p) transfer reactions
por: Sorlin, O, et al.
Publicado: (2002)

Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration
por: Philibert, Pascal, et al.
Publicado: (2010)

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity
por: Hornig, N. C., et al.
Publicado: (2016)

Ambiguous genitalia: two decades of experience
por: Al-Jurayyan, Nasir A. M.
Publicado: (2011)

Ring Chromosome 13 and Ambiguous Genitalia
por: Özsu, Elif, et al.
Publicado: (2014)

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)

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development
por: Elias, Felipe Martins, et al.
Publicado: (2022)

SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)
por: Adhikari, Amita, et al.
Publicado: (2019)

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
por: Bakkar, Ayman A, et al.
Publicado: (2023)

The first survey about women doctors in the Japanese Society for Pediatric Endocrinology (JSPE)
por: Murashita, Mari, et al.
Publicado: (2021)

A novel missense mutation of NR5A1 c.46T>C (p.C16R) in a Chinese infant with ambiguous genitalia
por: Zhang, Dan, et al.
Publicado: (2021)

RE: Ambiguous genitalia: two decades of experience
por: Al-Mendalawi, Mahmood D.
Publicado: (2011)

De morseir syndrome presenting as ambiguous genitalia
por: Thukral, Anubhav, et al.
Publicado: (2012)

A Clinical Approach to Diagnosis of Ambiguous Genitalia
por: Khanna, Kashish, et al.
Publicado: (2019)

A Case with late onset of ambiguous genitalia
por: Gargari, Soraya Saleh, et al.
Publicado: (2017)

Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
por: Losa, Ana, et al.
Publicado: (2023)

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY
por: Narita, Chisato, et al.
Publicado: (2023)

Spectroscopy of $^{46}$Ar by the $(t,p)$ two-neutron transfer reaction
por: Nowak, K., et al.
Publicado: (2016)

XX/XY Chimerism in Internal Genitalia of a Virilized Heifer
por: Szczerbal, Izabela, et al.
Publicado: (2022)

$^{43}$Ar and $^{44}$Ar
por: Hudis, J, et al.
Publicado: (1970)

$^{43}Ar$ and $^{44}Ar$
por: Hudis, J, et al.
Publicado: (1970)

To Be(Ar) Or Not to Be(Ar) – Jones Dilemma?
por: Andrews, Nicholas A., et al.
Publicado: (2022)

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient
por: Man, Elim, et al.
Publicado: (2013)

Pubertal development in 46,XY patients with NR5A1 mutations
por: Mönig, Isabel, et al.
Publicado: (2021)

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)

Identification of AR-V7 downstream genes commonly targeted by AR/AR-V7 and specifically targeted by AR-V7 in castration resistant prostate cancer
por: Sugiura, Masahiro, et al.
Publicado: (2020)

Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report
por: Nishina-Uchida, Noriko, et al.
Publicado: (2015)

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes
por: Wisniewski, Amy B., et al.
Publicado: (2009)

Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients
por: Al-Mutair, Angham, et al.
Publicado: (2004)

A Neonate with X-linked Lissencephaly with Ambiguous Genitalia
por: Minocha, Priyanka, et al.
Publicado: (2017)

Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey
por: Aydin, Banu Kucukemre, et al.
Publicado: (2019)

Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia
por: Rangarajan, Krithika, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_5pvv1m978428g2r4068536e2gs