PMID- 36852701
OWN - NLM
STAT- MEDLINE
DCOM- 20230301
LR  - 20230411
IS  - 2324-7096 (Electronic)
IS  - 2324-7096 (Linking)
VI  - 11
DP  - 2023 Jan-Dec
TI  - An Early Case of Complete Androgen Insensitivity Syndrome.
PG  - 23247096231157918
LID - 10.1177/23247096231157918 [doi]
LID - 23247096231157918
AB  - Inguinal hernias are rare in female infants, and when present, there is an 
      increased incidence of androgen insensitivity in these infants. We present a case 
      of bilateral inguinal hernias in a 26-day-old full-term phenotypic female. On 
      physical exam, the patient was found to have bilateral palpable inguinal masses 
      which were suspected to be testicular tissue on ultrasound. Patient also had 
      bilateral inguinal hernias, but otherwise there were no other concerning 
      symptoms, and the remaining physical examination was overall unremarkable. 
      Initial workup included a pelvic ultrasound that did not visualize a uterus or 
      ovaries. In addition, genetic testing confirmed normal male genotype with 100% 
      46, on fluorescence in situ hybridization (FISH) and array comparative genomic 
      hybridization (CGH) was negative and did not reveal any copy number changes. 
      Molecular testing was consistent with a diagnosis of androgen insensitivity 
      syndrome with hemizygous pathogenic variant in the androgen receptor (AR) gene 
      (deletion of Exon 2 of AR gene Xq12). This case highlights the importance of a 
      high clinical suspicion of complete androgen insensitivity syndrome (CAIS) in a 
      phenotypic female infant with inguinal hernias. To our knowledge, this is one of 
      the earliest diagnoses of CAIS in a phenotypically female infant.
FAU - Matalka, Leen
AU  - Matalka L
AUID- ORCID: 0000-0002-2283-057X
AD  - The University of Alabama at Birmingham, USA.
FAU - Dean, S Joy
AU  - Dean SJ
AD  - The University of Alabama at Birmingham, USA.
FAU - Beauchamp, Giovanna
AU  - Beauchamp G
AD  - The University of Alabama at Birmingham, USA.
FAU - Sunil, Bhuvana
AU  - Sunil B
AUID- ORCID: 0000-0003-1105-7056
AD  - Mary Bridge Children's Hospital, Tacoma, WA, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Investig Med High Impact Case Rep
JT  - Journal of investigative medicine high impact case reports
JID - 101624758
SB  - IM
MH  - Female
MH  - Male
MH  - Humans
MH  - *Androgen-Insensitivity Syndrome/complications/diagnosis/genetics
MH  - *Hernia, Inguinal/diagnosis
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Genotype
PMC - PMC10071093
OTO - NOTNLM
OT  - androgen insensitivity syndrome
OT  - bilateral inguinal hernias in female infant
OT  - case report
OT  - complete androgen insensitivity syndrome
OT  - disorders of sexual development
COIS- The author(s) declared no potential conflicts of interest with respect to the 
      research, authorship, and/or publication of this article.
EDAT- 2023/03/01 06:00
MHDA- 2023/03/03 06:00
PMCR- 2023/02/28
CRDT- 2023/02/28 05:14
PHST- 2023/02/28 05:14 [entrez]
PHST- 2023/03/01 06:00 [pubmed]
PHST- 2023/03/03 06:00 [medline]
PHST- 2023/02/28 00:00 [pmc-release]
AID - 10.1177_23247096231157918 [pii]
AID - 10.1177/23247096231157918 [doi]
PST - ppublish
SO  - J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231157918. doi: 
      10.1177/23247096231157918.