Abstract
ABSTRACT
Three chromatin negative cases of gonadal dysgenesis are presented. The first patient is an example of pure gonadal dysgenesis which is probably more common than has been recognised.
The second patient is of short stature and suffers also from diabetes mellitus and extreme deuteranomaly. The association with diabetes mellitus is not unexpected and the pedigree of colour blindness vindicates nuclear sexing as an index of X chromosomal constitution.
The third patient has short stature, neck webbing and had menstruated regularly and apparently normally for six years.
Evidence is presented for a genetic aetiology of gonadal dysgenesis. The most likely mechanism is some form of chromosomal aberration.
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism
Cited by
22 articles.
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1. Clinical Manifestations of Disorders of the Human Ovary;The Ovary;1977
2. ATYPICAL GONADAL DYSGENESIS. A Clinical and Cytogenetical report of three patients;BJOG: An International Journal of Obstetrics and Gynaecology;1973-08
3. A Successful Pregnancy Associated with Sex Chromosomal Mosaicism of the XO/XX Type;The Australian and New Zealand Journal of Obstetrics and Gynaecology;1971-11
4. Male pseudohermaphroditism and pure gonadal dysgenesis in sisters;American Journal of Obstetrics and Gynecology;1967-12
5. THE XY FEMALE;BJOG: An International Journal of Obstetrics and Gynaecology;1967-06