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Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome.
- Source :
-
Hormone research [Horm Res] 1991; Vol. 35 (3-4), pp. 124-31. - Publication Year :
- 1991
-
Abstract
- A full-term 46,XY female newborn 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 müllerian 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.
- Subjects :
- Abnormalities, Multiple pathology
Abnormalities, Multiple physiopathology
Base Sequence
Blotting, Northern
Blotting, Southern
Female
Growth
Hormones blood
Hormones urine
Humans
Infant
Male
Molecular Sequence Data
Polymerase Chain Reaction
Steroids blood
Steroids urine
Urinary Bladder abnormalities
Vagina abnormalities
Zinc Fingers genetics
Abnormalities, Multiple genetics
Genitalia abnormalities
Sex Determination Analysis
Y Chromosome
Subjects
Details
- Language :
- English
- ISSN :
- 0301-0163
- Volume :
- 35
- Issue :
- 3-4
- Database :
- MEDLINE
- Journal :
- Hormone research
- Publication Type :
- Academic Journal
- Accession number :
- 1806465
- Full Text :
- https://doi.org/10.1159/000181887