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Gonadal function in patients with galactosaemia
Author(s) -
Kaufman F. R.,
Donnell G. N.,
Roe T. F.,
Kogut M. D.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799450
Subject(s) - endocrinology , medicine , galactosemia , ovary , biology , gonad , hormone , hypergonadotropic hypogonadism , endogeny , galactose , physiology , biochemistry
Gonadal function was followed in 26 females and 12 males with galactosaemia due to deficiency of the enzyme galactose‐1‐phosphate (Gal‐1‐P) uridyl transferase over a 4 year period. Gonadal function was normal in males, but all females except two had evidence of acquired ovarian failure. Twelve females with ovarian failure documented at the beginning of this study continued to have either primary or secondary amenorrhoea on follow‐up. Five of six patients, who previously had normal gonadal function developed either hypergonadotrophic hypogonadism or an abnormal response to gonadotrophin‐releasing hormone (LRH) indicative of acquired ovarian damage. Seven of eight female patients, 1–12 years of age, who were evaluated for the first time had an exaggerated release of gonadotrophins during LRH stimulation tests diagnostic of gonadal insufficiency. The pathogenesis of ovarian failure remains unknown, but it appears likely that galactose or Gal‐1‐P is toxic to the ovary. The source of galactose metabolites, which may begin to accumulate prenatally and continue to damage the gonad in the postnatal period, is likely to be derived from the diet and from the endogenous synthesis of Gal‐1‐P from glucose via a variety of metabolic pathways. The testis appears to be relatively resistant to the effects of abnormal galactose metabolism.