Two Cases of 45,X/47,Xxx Turner Mosaicism With Different Growth Patterns Possibly Caused By Different Growth Hormone Therapies
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2019, Vol 14, Issue 2
Abstract
We reported two Japanese girls with 45,X/47,XXX Turner mosaicism, who showed different growth patterns possible caused by different growth hormone (GH) therapies. The first case was diagnosed with 45,X/47,XXX mosaicism at the age of 7 years, and a high-dose GH hormone therapy (0.35mg/kg/week) started from the diagnosis. While, the second case was initially treated with a low-dose GH therapy (0.175mg/kg/week) on the basis of diagnosis of GH deficiency from 7 years of age. However, the incidental chromosomal test identified her as 45,X/47,XXX mosaicism, and GH therapy was changed to high-dose replacement at the age of 12 years. We compared the growth patterns between the two cases. Case 1 obtained significant increased growth (height SDS from -3.1SD to -2.4SD), while, case 2 could not attain the sufficient growth (height SDS from 2.5SD to -2.4SD). They entered puberty spontaneously and achieved menarche without the use of estradiol. These findings suggest that mild clinical manifestations observed in 45,X/47,XXX mosaicism might guide to undiagnose Turner syndrome and delay of start of an adequate-dose GH therapy. Earlier diagnosis and an appropriate GH therapy can improve the clinical course and prognosis. Turner syndrome is defined as partial or complete loss of one of the X chromosomes, affecting 1:2,000 to 2,500 live female births [1]. The syndrome is highly variable can differ dramatically among the cases. Affected females potentially develop a wide variety of clinical features, affecting various organ systems. Common features include short stature, ovarian failure and phenotypic abnormalities. Turner syndrome may be diagnosed shortly after birth or during early childhood, while mild cases can remain undiagnosed until later in life and even during adulthood. High-dose recombinant growth hormone (GH) therapy (0.35 mg/kg/ week) for Turner syndrome was permitted for use in Japan in 2000, and it can help to achieve greater height than low-dose GH therapy (0.175 mg/kg/week) used for growth hormone deficiency [2,3]. Most cases with Turner syndrome need sex hormone replacement therapy in order to undergo pubertal development and begin their menstrual periods following the GH therapy. On the other hand, few individuals with Tuner syndrome show minimal symptoms, adequate growth and spontaneous, progressive puberty. 45,X/47,XXX Turner mosaicism, which is a rare type of mosaicism, is recognized to have the improved prognosis for growth and ovarian function [4-9] have reported that females with 45,X/47,XXX mosaicism are more mildly affected clinically. They have near normal ovarian function with spontaneous puberty. They also show mild growth retardation, and some cases do not require GH therapy. In the present study, we reported two Japanese girls with 45,X/47,XXX Turner mosaicism, who showed different growth patterns possible caused by different GH therapies. The first case was diagnosed with 45,X/47,XXX mosaicism at the age of 7 years, and a high-dose GH hormone therapy started from the diagnosis. While, the second case was initially treated with a low-dose GH therapy as growth hormone deficiency from 7 years of age. However, the incidental chromosomal test identified 45,X/47,XXX mosaicism, and GH therapy was changed to high-dose replacement at the age of 12 years. We compared the growth development between the two cases.
Authors and Affiliations
Chihiro Nozaki, Tatsuhiko Urakami
Keywords
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- EP ID EP598526
- DOI 10.26717/BJSTR.2019.14.002515
- Views 170
- Downloads 0
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