| Added by | Cavailles |
|---|---|
| Group name | EquipeVC |
| Item Type | Journal Article |
| Title | Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia |
| Creator | Paris et al. |
| Author | F. Paris |
| Author | L. Gaspari |
| Author | F. Mbou |
| Author | P. Philibert |
| Author | F. Audran |
| Author | Y. Morel |
| Author | A. Biason-Lauber |
| Author | C. Sultan |
| Abstract | Pubertal 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 17?-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 17?-hydroxylase and 17,20-lyase activity. The mutant P35T seemed to retain 15-20% of 17?-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 17?-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. |
| Publication | Andrology |
| Volume | 4 |
| Issue | 2 |
| Pages | 263-269 |
| Date | Mar 2016 |
| Journal Abbr | Andrology |
| Language | eng |
| DOI | 10.1111/andr.12145 |
| ISSN | 2047-2927 |
| Library Catalog | PubMed |
| Extra | PMID: 26845730 |
| Tags | Adolescent, Androgen-Insensitivity Syndrome, clinic, Cohort Studies, Cross-Sectional Studies, disorders of sex differentiation, Gynecomastia, Hormones, Humans, Male, Mutation, Receptors, Androgen, sex hormones, Steroid 17-alpha-Hydroxylase, steroids, Transcriptome |
| Date Added | 2019/05/16 - 15:15:34 |
| Date Modified | 2019/05/16 - 15:16:34 |
| Notes and Attachments | PubMed entry (Attachment) Texte intégral (Attachment) |
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