Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

Lee, Sung Won; Kwak, Dong Shin; Jung, In Sub; Kwak, Joo Hee; Park, Jung Hwan; Hong, Sukwoo; Lee, Chang Bum; Park, Yong Soo; Kim, Dong Sun; Choi, Woong; Ahn, You Hern

doi:10.3803/enm.2015.30.2.226

Cited by 11 publications

(8 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The three patients with PAIS we report here were normally virilized, with their androgen resistance expressed exclusively through isolated pubertal gynecomastia. There have been several reports of pubertal gynecomastia revealing PAIS but in most cases undervirilzation or infertility was associated (Zenteno et al ., ; Lee et al ., ; Petroli et al ., ). Conversely, the follow‐up of PAIS patients revealed the presence of P/PPG in 93% of the cases, but all these patients presented other signs of undervirilization (Hellmann et al ., ).…”

Section: Discussionmentioning

confidence: 98%

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

et al. 2016

View full text Add to dashboard Cite

SUMMARYPubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1-2 years. In this descriptive cross-sectional study, we investigated 25 adolescent males with prominent (>B3) and/or persistent (>2 years) pubertal gynecomastia (P/PPG) to determine whether a hormonal/genetic defect might underline this condition. Endocrine investigation revealed the absence of hormonal disturbance for 18 boys (72%). Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. The last patient showed a 17a-hydroxylase/17,20-lyase deficiency as a result of a compound heterozygous mutation of the CYP17A1 gene leading to p.Pro35Thr(P35T) and p.Arg239Stop(R239X) in the P450c17 protein. Enzymatic activity was analyzed: the mutant protein bearing the premature stop codon R239X showed a complete loss of 17a-hydroxylase and 17,20-lyase activity. The mutant P35T seemed to retain 15-20% of 17a-hydroxylase and about 8-10% of 17,20-lyase activity. This work demonstrates that P/PPG had an endocrine/genetic cause in 28% of our cases. PAIS may be expressed only by isolated gynecomastia as well as by 17a-hydroxylase/17,20-lyase deficiency. Isolated P/PPG is not always a 'physiological' condition and should thus be investigated through adequate endocrine and genetic investigations, even though larger studies are needed to better determine the real prevalence of genetic defects in such patients.

show abstract

Section: Discussionmentioning

confidence: 98%

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

et al. 2016

View full text Add to dashboard Cite

show abstract

“…AIS is a rare endocrine disorder falling within the category of 46,XY DSD caused by mutations within the AR gene located on the X chromosome long arm and is classified as CAIS, PAIS, or MAIS ( 22 ). PAIS, a relatively frequent type, has a variable clinical presentation depending on the degree to which the external genitalia responds to androgens ( 23 , 24 ). Psychological distress occurred due to the vague gender identity of the patients ( 25 ).…”

Section: Discussionmentioning

confidence: 99%

Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis

et al. 2021

View full text Add to dashboard Cite

BackgroundAndrogen insensitivity syndrome (AIS) is a rare X-linked genetic disease and one of the causes of 46,XY disorder of sexual development. The unstraightforward diagnosis of AIS and the gender assignment dilemma still make a plague for this disorder due to the overlapping clinical phenotypes.MethodsPeripheral blood mononuclear cells (PBMCs) of partial AIS (PAIS) patients and healthy controls were separated, and RNA-seq was performed to investigate transcriptome variance. Then, tissue-specific gene expression, functional enrichment, and protein–protein interaction (PPI) network analyses were performed; and the key modules were identified. Finally, the RNA expression of differentially expressed genes (DEGs) of interest was validated by quantitative real-time PCR (qRT-PCR).ResultsIn our dataset, a total of 725 DEGs were captured, with functionally enriched reproduction and immune-related pathways and Gene Ontology (GO) functions. The most highly specific systems centered on hematologic/immune and reproductive/endocrine systems. We finally filtered out CCR1, PPBP, PF4, CLU, KMT2D, GP6, and SPARC by the key gene clusters of the PPI network and manual screening of tissue-specific gene expression. These genes provide novel insight into the pathogenesis of AIS in the immune system or metabolism and bring forward possible molecular markers for clinical screening. The qRT-PCR results showed a consistent trend in the expression levels of related genes between PAIS patients and healthy controls.ConclusionThe present study sheds light on the molecular mechanisms underlying the pathogenesis and progression of AIS, providing potential targets for diagnosis and future investigation.

show abstract

“…Gynaecomastia can be defined as benign proliferation of the glandular tissue of the male breast which manifests clinically as breast enlargement with a palpable firm rubbery disc extending concentrically from the nipples ( 1 , 2 ). It is to be differentiated from lipomastia which refers to breast enlargement due to accumulation of fatty tissue ( 3 ).…”

Section: Introductionmentioning

confidence: 99%