Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome

W. Sorgo, L. Gortner, P. Banmann, H. P. Streb, R. Oberhoffer, W. M. Teller, M. Zachmann, B. Heymer, M. Graf, U. Lauermann, R. J. Jäger, C. Ebensperger

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

A full-term 46, XY female new born presented with respiratory failure due to a right-sided diaphragmatic hernia. During surgical repair, exploration revealed isolated dextrocardia and hypoplasia of the right lung. Neither gonads nor wolffian or miillerian structures could be palpated. Cardiac catheterization demonstrated defects of the ventricular septum, hypoplasia of the right pulmonary artery, persistence of the left vena cava superior and a patent ductus arteriosus. Anthropometric data were normal at birth, but fell below the 3rd percentile during follow-up. Body proportions displayed a predominance of the upper compared to the lower segment. Endocrine studies indicated no defect of steroid biosynthesis and no functional gonadal tissue. Using genetic analyses of various loci within the testis-determining region of the Y chromosome, a mutation could not be detected. The patient died from pneumonia at the age of 19 months. Postmortem examination confirmed the diagnosis of gonadal agenesis.

Original languageEnglish
Pages (from-to)124-131
Number of pages8
JournalHormone Research in Paediatrics
Volume35
Issue number3-4
DOIs
StatePublished - 1991
Externally publishedYes

Keywords

  • Gonadal agenesis
  • Multiple malformations
  • Sex-determining region of Y chromosome
  • Testing

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