Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutation


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KORKMAZ Ö., ÖZEN S. , ÖZCAN N., BAYINDIR P., ŞEN S. , ONAY H. , et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.9, ss.179-181, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 9 Konu: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.4274/jcrpe.4058
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayısı: ss.179-181

Özet

Persistent Mullerian duct syndrome is the result of either anti-Mullerian 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.