Retrospective evaluation of clinical and laboratory findings of children diagnosed with kowarski syndrome (bioinactive growth hormone) between february 2009-february 2019

This study was perfomed between February 2009 and February 2019 with the clinical, laboratory and prognostic findings of patients diagnosed with Kowarski syndrome (Bioinactive Growth Hormone) in Departmant of Pediatric Endocrinology and Metabolism, Department of Pediatrics of Gaziantep Universty in order to contribute to literature. 110 cases diagnosed with Kowarski syndrome between February 2009 and February 2019 were evaluated retrospectively. 13 cases were excluded because their data could not be reached. 97 cases continued to work. 92 cases at least one year, 62 cases at least two years, 30 cases at least three years, 9 cases at least four years and 5 cases at least five years were followed. Age at the beginning of medical therapy, body height, body weight, SDS of height, SDS of weight, body surface area, BMI, SDS of BMI, bone age, height age, status of puberty, pituitary MRG, parents' height, midparental height, SDS of midparental height, pretreatment length growth rate, thyroid function tests, IGF-I level, responses to the growth hormone stimulation tests, responses to the IGF-I generation test, GH treatment doses, adverse effects after GH treatment, gaining height and SDS of height were recorded in certain periods with GH treatment. Dose of rhGH was applied between 0,2-0,25 mg/kg/week in our department. The result of the study of the average age of the patients was 9,44 ± 3,34 year (48,5% male and 51,5% female). Pre-treatment SDS of height -3,21 ± 1,03, midparental height 162,51 ± 8,92, SDS of midparental height -1,04 ± 0,74, bone age 7,04 ± 3,26 year, height age 6,78 ±3 year and BMI 15,55 ± 2,42 kg/m², pretreatment length growth rate 3,37 ± 0,92 cm/year were found. Height gaining was 9,04 ± 2,58cm/year at the end of the first year, 7,3±1,66cm/year at the end of the second year, 6,48 ± 1,58 cm/year at the end of the third year, 6,96 ± 0,97 cm/year at the end of the fourth year, 5,34 ±2,58 cm/year at the end of the fifth year of the medical therapy. SDS of height gaining was 0,54 ± 0,48 after the first year, 0,31 ± 0,31 after the second year, 0,28 ± 0,31 after the third year of the medical therapy. Hypothyroidism was detected in 4 patients and scoliosis was detected in 4 patients during the follow-up of patients receiving GH treatment. It was found that height and height SDS gain were highest in the first year of treatment and gradually decreased in the following years. As a result, Kowarski syndrome has a very good response to GH treatment similar to GHD. Therefore, it is very important that a treatment with low side effects and high reliability such as GH treatment should be given to reach the target height of patients with Kowarski syndrome. Keywords: Kowarski syndrome, Growth hormone treatment, IGF-I generation test