Abstract
Two cases of gonosomal mosaicism (XO/XX and XO/XY) are described presenting with asymmetric body development before and during growth hormone (GH) treatment. A girl, 11 years of age (bone age 10 yr/ Greulich-Pyle) with short slalure (height SDS −3.7/ SDS 0.47 for UTS) and mild clinical symptoms of Turner's syndrome developed different mammary size while treated with GH. Her karyotype was 45 XO/46 XX with a recovery of 45 XO cell lines in 20% of peripheral blood cells. Neither her clinical aspect nor endocrine data revealed any sign of pubertal development at this time. Six month following GH- therapy with 4IU/m2/d hergrowlh velocity increased from 3.1 to 10.1cm/yr. Simultaneously an unilateral breast development was noticed being B2 at the left and B1 (Tanner stage) at the right side, whereas pubic and axillary hair development was infantile at a bone age of 11 years (GP). The second patient, a boy presented at the age of 10 years (bone age 10 yr/ GP) with growth relaxation (height SDS - 2.1), but without any diagnostic reference to growth hormone deficiency. The main clinical feature was a mild body asymmetry with a hemthypotrophy of the lelt side. The uncommon clinical aspect led to a genetic analysis, showing a karyotype of 45XO/46XY with the normal male cell line found in 60 % of peripheral blood cells. At the age of 14 years (bone age 14 yr / GP) the patient developed spontaneous puberty. The physical asymmetry remained constant. Because of low growth velocity and predicted adult height far below target height GH- therapy was initiated. The beneficial effect of GH- treatment on tinal height in individuals with gonosomal mosaicism is doubted. Its deteriorating ettect in patients with predisposition to hemihypertrophy/ hemihypotrophy may be dependant on growth potential in tissues of different sides as a function of percentage distribution of gonosomal abnormal cells.
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Jung, H., Mühlenberg, R. & Willig, R. ASYMMETRIC DEVELOPMENT IN PATIENTS WITH GONOSOMAL MOSAICISM. Pediatr Res 33 (Suppl 5), S65 (1993). https://doi.org/10.1203/00006450-199305001-00372
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DOI: https://doi.org/10.1203/00006450-199305001-00372