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Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation.
- Source :
- Journal of Clinical Research in Pediatric Endocrinology; Jun2017, Vol. 9 Issue 2, p179-181, 3p
- Publication Year :
- 2017
-
Abstract
- Persistent Müllerian duct syndrome is the result of either anti-Müllerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable. The patient's karyotype was XY, SRY (+), and his AMH level was 22 ng/mol. Structures suggestive of ovaries, a uterus, and fallopian tubes were observed during the laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed with a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c.24G>A (p.W8X) mutation. The patient was assessed as a case of AMH receptor resistance. Orchiopexy was performed. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 13085727
- Volume :
- 9
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Journal of Clinical Research in Pediatric Endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 123478182
- Full Text :
- https://doi.org/10.4274/jcrpe.4058