Vojnosanitetski pregled 2016 Volume 73, Issue 10, Pages: 961-966
https://doi.org/10.2298/VSP150620014D
Full text ( 673 KB)
Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism
Dragović Tamara (Military Medical Academy, Clinic for Endocrinology, Belgrade + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade)
Đuran Zorana (Military Medical Academy, Clinic for Endocrinology, Belgrade)
Jelić Svetlana (Clinical Hospital Center “Bežanijska kosa”, Clinic for Internal Medicine, Department of Endocrinology, Belgrade + Faculty of Medicine, Belgrade)
Marinković Dejan (Military Medical Academy, Clinic for Endocrinology, Belgrade)
Kiković Saša (Military Medical Academy, Clinic for Endocrinology, Belgrade)
Kuzmić-Janković Snežana (Military Medical Academy, Clinic for Endocrinology, Belgrade)
Hajduković Zoran (Military Medical Academy, Clinic for Endocrinology, Belgrade + University of Defence, Faculty of Medicine of the Military Medical Academy, Belgrade)
Introduction. Turner syndrome presents with one of the most frequent
chromosomal aberrations in female, typically presented with growth
retardation, ovarian insufficiency, facial dysmorphism, and numerous other
somatic stigmata. Gigantism is an extremely rare condition resulting from an
excessive growth hormone (GH) secretion that occurs during childhood before
the fusion of epiphyseal growth plates. The major clinical feature of
gigantism is growth acceleration, although these patients also suffer from
hypogonadism and soft tissue hypertrophy. Case report. We presented a girl
with mosaic Turner syndrome, delayed puberty and normal linear growth for the
sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In
the presented case all the typical phenotypic stigmata related to Turner
syndrome were missing. Due to excessive pituitary GH secretion during the
period while the epiphyseal growth plates of the long bones are still open,
characteristic stagnation in longitudinal growth has not been demonstrated.
The patient presented with delayed puberty and primary amenorrhea along with
a sudden appearance of clinical signs of hypersomatotropinism, which were the
reasons for seeking medical help at the age of 16. Conclusion. Physical
examination of children presenting with delayed puberty but without growth
arrest must include an overall hormonal and genetic testing even in the cases
when typical clinical presentations of genetic disorder are absent. To the
best of our knowledge, this is the first reported case of simultaneous
presence of Turner syndrome and gigantism in the literature.
Keywords: turner syndrome, gigantism, pituitary neoplasms, adolescent, women, puberty, growth hormone, insulin like growth factor I