A case of complete testicular feminization: Laparoscopic orchiectomy and analysis of androgen receptor gene mutation

Kanayama, Hiro‐omi; Naroda, Takushi; Inoue, Yoshio; Kurokawa, Yasushi; Kagawa, Shunsuke

doi:10.1046/j.1442-2042.1999.00065.x

Cited by 8 publications

(3 citation statements)

References 3 publications

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“…How best to excise the gonads has evolved gradually as fluency with laparoscopy has increased. 11 Our technique is consistent with the work reported by others in which a minimally invasive approach was used with good results. 7,8,[10][11][12][13][14] Although the suprapubic incision was enlarged from 0.5 to approximately 1.5 cm for passage of the extirpated testicles, our case was conducted through abdominal access ports of 5-mm caliber.…”

Section: Discussionsupporting

confidence: 90%

Bilateral Orchiectomy for the Surgical Treatment of Complete Androgen Insensitivity Syndrome: Patient Outcome after 1 Year of Follow-up

Sills

Perloe²,

Kaplan³

et al. 2003

Journal of Laparoendoscopic & Advanced Surgical Techniques

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Section: Discussionsupporting

confidence: 90%

Bilateral Orchiectomy for the Surgical Treatment of Complete Androgen Insensitivity Syndrome: Patient Outcome after 1 Year of Follow-up

Sills

Perloe²,

Kaplan³

et al. 2003

Journal of Laparoendoscopic & Advanced Surgical Techniques

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“… 29 Another known mutation in Case 6, p.P893L, has repeatedly been reported as a cause of CAIS. 30 31 32 …”

Section: Discussionmentioning

confidence: 99%

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

Yuan

Zhang

et al. 2018

Asian J Androl

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Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46, XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype–phenotype correlations. Ten patients from unrelated families, aged 2–31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS. Genetic analysis of AR gene revealed the existence of 10 different mutations, of which five were novel (c.2112 C>G[p.S704R], c.2290T>A[p.Y764N], c.2626C>T[p.Q876X], c.933dupC[p.K313Qfs*28], and c.1067delC[p.A356Efs*123]); the other five were previously reported (c.1789G>A[p.A597T], c.2566C>T[p.R856C], c.2668G>A[p.V890M], c.2679C>T[p.P893L], and c.1605C>G[p.Y535X]). Regarding the distribution of these mutations, 60.0% were clustered in the ligand-binding domain of AR gene. Exons 1 and 8 of AR gene each accounted for 30.0% (3/10) of all mutations. Most of the truncation mutations were in exon 1 and missense mutations were mainly located in exons 4–8. Our study expands the spectrum of AR gene mutations and confirms the usefulness of AR gene sequencing to support a diagnosis of AIS and to enable prenatal or antenatal screening.

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“…This variant (p.P893L) has been reported twice as a causative factor of CAIS[ 8 , 9 ]. However, few structural and functional studies[ 10 , 11 ] have been undertaken until now.…”

Section: Discussionmentioning

confidence: 99%

Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

Wang¹,

Chen²,

Zhu³

et al. 2021

WJCC

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BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene (AR). However, the underlying molecular mechanisms for the majority of AR variants remain unclear. In this study, we identified a point variant in three patients with complete androgen insensitivity syndrome (CAIS), summarized the correlation analysis, and performed a literature review. CASE SUMMARY The proband was raised as a girl. In infancy, she was first referred to hospital with a right inguinal hernia. Ultrasonography revealed the absence of a uterus and ovaries, and a testis-like structure located at the inguinal canal. Further diagnostic workup detected a 46, XY karyotype, and fluorescence in situ hybridization analysis showed the presence of the SRY gene. Histological analysis revealed the excised tissue to be testicular. Twelve years later, she was admitted to our hospital with a lack of breast development. Her pubic hair and breasts were Tanner stage I. She had normal female external genitalia. Blood hormone tests showed normal testosterone levels, low estradiol levels, and high gonadotropin levels. Her two siblings underwent similar examinations, and all three had a rare hemizygous missense mutation in AR: c.2678C>T. In vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation cells. CONCLUSION This case of CAIS was caused by an AR variant (c.2678C>T). Functional studies showed impaired nuclear translocation ability of the mutant protein.

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A case of complete testicular feminization: Laparoscopic orchiectomy and analysis of androgen receptor gene mutation

Cited by 8 publications

References 3 publications

Bilateral Orchiectomy for the Surgical Treatment of Complete Androgen Insensitivity Syndrome: Patient Outcome after 1 Year of Follow-up

Bilateral Orchiectomy for the Surgical Treatment of Complete Androgen Insensitivity Syndrome: Patient Outcome after 1 Year of Follow-up

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

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