Clinical and laboratory characteristics of patients presenting to the pediatric genetic diseases polyclinic with a prediagnosis of short stature in the last 10 years

Short stature is a term applied to children of the same sex, same chronological age, and ideally of the same racial-ethnic group who are 2 standard deviations (SD) or more below the mean. Short stature may be a variant of normal, or it may be the result of genetic, endocrinological or systemic diseases. In this study, prenatal, natal, postnatal, medical and surgical treatment histories, demographic characteristics and clinical, laboratory and radiological findings of 740 patients who were referred to Hacettepe University İhsan Doğramacı Children's Hospital Pediatric Genetics Department outpatient clinic with the complaint of short stature between January 2012 and January 2022 were retrospectively evaluated. After the initial evaluation of these patients, it was observed that 565 patients were below -2 SDS. It was determined that 263 (46.5%) of these patients were below -3 SDS and 302 (53.5%) were between -2 SDS and -3 SDS. Among patients with height measurements <-2SDS (n=565), 64% (n=361) were female and 36% (n=204) were male. The mean age at presentation was 104±57 months (8 years 8 months ± 4 years 9 months). The mean age at presentation was 9,07±4,39 years in girls and 7,65±5,28 years in boys, and a statistically significant difference was found between them (p<0.001). Parental consanguinity was found in 29.3% (n=166 patients) of patients, a ratio greater than the mean ratio of Turkey. In 33.4% of patients (n=189 patients), family history was positive in terms of short stature. Interestingly, the family history of short stature was higher in patients with parental consanguinity compared to that of the patients without parental consanguinity. At least one minor dysmorphic finding was detected in majority (89.9%, n=508 patients) of patients whereas three or more dysmorphic findings were detected in 376 (66.5%) patients. The clinical diagnostic groups consisted of primary growth disorders (n=277, 49%), secondary growth disorders (n=135 patients, 23.9%), and idiopathic short stature (n=56 patients, 9.9%). No diagnosis could be established in 17.2% of patients. Genetic evaluation was performed in 76.8% of patients and a genetic diagnosis was established in 35.3% (n=153) of them. Keywords: Short stature, pediatric genetics, dysmorphic finding, genetic tests.