Abstract
Two sisters with transferase deficiency galactosaemia presented with hypergonadotropic hypogonadism. In the younger girl galactosaemia was documented first at 9 months of age, although she had never been exposed to exogenous galactose in utero or after birth.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Allen J. T., Gillett M., Holton J. B., King G. S., Pettit B. R. Evidence for galactosaemia in utero. Lancet. 1980 Mar 15;1(8168 Pt 1):603–603. doi: 10.1016/s0140-6736(80)91096-x. [DOI] [PubMed] [Google Scholar]
- Chen Y. T., Mattison D. R., Feigenbaum L., Fukui H., Schulman J. D. Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science. 1981 Dec 4;214(4525):1145–1147. doi: 10.1126/science.7302587. [DOI] [PubMed] [Google Scholar]
- Hypogonadism and galactosemia. N Engl J Med. 1981 Aug 20;305(8):464–465. doi: 10.1056/NEJM198108203050819. [DOI] [PubMed] [Google Scholar]
- Kaufman F. R., Kogut M. D., Donnell G. N., Goebelsmann U., March C., Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med. 1981 Apr 23;304(17):994–998. doi: 10.1056/NEJM198104233041702. [DOI] [PubMed] [Google Scholar]