Evidence map›Paper›PMID 35974208›Full record

ArticleJournal of endocrinological investigation2023

Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.

Q Liu, X Yin, P Li

Abstract read
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In one paragraph

Article in Journal of endocrinological investigation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. [Value of the human chorionic gonadotropin stimulation test in the diagnosis of disorder of sexual development in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024
    Article
  7. Epithelial and mesenchymal fate decisions in Wolffian duct development.Trends in endocrinology and metabolism: TEM · 2023
    Review
  8. Complete androgen insensitivity syndrome: a case report and literature review.The Journal of international medical research · 2023
    Review
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Q LiuDepartment of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
X YinDepartment of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
P LiDepartment of Endocrinology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China. lipin2019@126.com.ORCID http://orcid.org/0000-0002-6144-0750

Funding

Shanghai Shenkang Hospital Development Center SHDC2020CR2058BShanghai Shenkang Hospital Development Center SHDC2020CR6028Special Program for Clinical Research and Cultivation of Shanghai Children's Hospital 2021YLYM05
6 · The paper itself

Abstract

backgroundAndrogen insensitivity syndrome (AIS) is caused by abnormal androgen receptor (AR) genes that show variable genotypes and phenotypes. However, the correlation between genotype and phenotype is unclear.

methodsWe retrospectively evaluated 64 patients with AIS at Shanghai Children's Hospital from 2015 to 2022. We analysed the clinical data of the patients, including hormone levels, AR gene variants, and functional domains.

resultsVariants occurred in the 3 major functional domains in 56 patients, including 23 patients with complete androgen insensitivity syndrome (CAIS) and 33 with partial androgen insensitivity syndrome (PAIS). The incidence of nonscrotal fusion (P = 0.019) and proximal urethral opening (P = 0.0002) in the ligand-binding domain (LBD) group was higher than that in the non-LBD group. The phallus length in the LBD group was significantly shorter than that in the non-LBD group (P = 0.009). The external masculinization score (EMS) in the LBD group was significantly lower than that in the non-LBD group (P = 0.013). The levels of inhibin-B (INHB; P = 0.0007), basal luteinizing hormone (LH; P = 0.033), LH peak (P = 0.002), and testosterone (T) after human chorionic gonadotropin (HCG) stimulation (P = 0.001) in the LBD group were higher than those in the non-LBD group. There were 53 variants in 64 patients, including 42 reported and 11 novel AR variants, including p.Met247Arg, p.Asp266Glyfs*39, p.Arg362Serfs*140, p.Ala385Val, p.Glu541Asp, p.Pro613Leu, p.Pro695Leu, p.Asn757Asp, c.1616 + 1dup, c.1886-1G > A and exon 5-7 deletion.

conclusionsThe EMS of patients with AIS in the LBD group was significantly lower than that in the non-LBD group. The phallus length was shorter, and the incidences of proximal urethral opening and nonscrotal fusion were higher, suggesting that the phenotypes in the LBD group were more severe. The levels of INHB, basal LH, peak LH, and T after HCG stimulation in the LBD group were higher than those in the non-LBD group, suggesting that androgen resistance in the LBD group was more severe. We identified 53 variants in 64 patients: 42 reported and 11 novel AR variants. These findings provide new and deeper insight into AIS diagnosis and genetic assessment of AIS.

Indexed as

Androgen-Insensitivity SyndromeAndrogensChildChinaFemaleHumansMaleMutationReceptors, AndrogenRetrospective StudiesVirilismAndrogensReceptors, AndrogenAndrogen insensitivity syndrome (AIS)Androgen receptorFunctional domainGenotype–phenotype correlationVariant

Identifiers

PMID35974208
PMCPMC9829593

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.