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.
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Issue date:
DOI: https://doi.org/10.1203/00006450-199305001-00372
