Growth and development in girls and women with classic galactosemia Public
Ditkoff, Erica Lee (2013)
Published
Abstract
Classic galactosemia results from profoundly impaired function
of the enzyme galactose-1-phosphate uridylyltranferase (GALT).
Delayed postnatal growth has been reported as a long-term
complication of the disorder. The purpose of this investigation was
to characterize the growth patterns of girls and women with classic
galactosemia through childhood and into adulthood. Collected
growth information from individuals with classic galactosemia was
compared to data from unaffected siblings. The study also aimed to
evaluate whether a relationship exists between patient physical
growth, predicted residual GALT activity, hormone replacement
therapy (HRT) use, and ovarian function reflected in plasma AMH
levels.
Results showed that, as a group, girls with galactosemia between the ages of 3 and 14 years had median heights below the 20th percentile. However, as the galactosemic girls grew to become young adults their median heights reached above the 50th percentile. Additionally, galactosemic girls and women between the ages of 3 to 24 years had median BMIs between the 20th and 40th percentiles. However, both affected and unaffected girls and women over the age of 20 years had very similar median BMI percentiles and median height standard deviations.
Girls and women who reported using HRT had slightly higher median height percentiles compared to those who did not undergo HRT. We did not see a relationship between AMH level and either height or BMI among galactosemic girls and young women. Additionally, there did not appear to be a connection between predicted residual GALT activity and either height or BMI among galactosemic girls and young women. However, the number of volunteers for whom we had growth data, AMH levels, and predicted residual GALT activity was very limited.
I hope our findings will lead to a more thorough understanding of growth patterns, and the factors that impact growth of girls with classic galactosemia. Ultimately, this information could assist patients and their health care providers in making informed decisions about potential hormone replacement therapy regimens.
Table of Contents
Introduction...1
Figure 1...2
Methods...8 Results...11Figure 2...12
Figure 3...13
Figure 4...15
Figure 5...16
Figure 6...17
Figure 7...18
Figure 8...19
Figure 9...20
Table 1...21
Figure 10...22
Discussion...22 References...30About this Honors Thesis
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