Turner syndrome in Albania and the efficacy of its treatment with growth hormone

Abstract

The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5-23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features

“…It was found that in 2015 the prevalence of TS among children 0-18 years in Ukraine was 77.5 per 100.000 live female births. The incidence rate is consistent with other reports, although is a higher figure when compared to some other countries such as Denmark ( 3 , 5 ), Germany ( 9 ), Albania ( 6 ) and Japan ( 2 ). Age of initial diagnosis of TS was 9.33±4.93 years with a maximum frequency of initial registration of the disease in puberty, most likely because of the referrals of patients with growth delay or delay/absence of sexual development or menstruation at normal female pubertal ages.…”

“…Studies on the frequency of autoimmune thyroid disease have shown increased TPOAb levels in 48.45% of our patients, a finding that is similar to figures reported from Italy ( 32 ) and Denmark ( 33 ), but which is less than in Albania ( 6 ) and Poland ( 35 ). Also, among TS girls with elevated TPOAb levels the number of patients with subclinical and clinical hypothyroidism was greater (77.9%) as compared to other European countries.…”

“…This variability has been attributed to the prevalence of mosaic forms and the lack of classical features of the disease ( 1 , 2 , 3 , 4 , 5 ). A significant delay at initial diagnosis of TS has been well documented ( 3 , 6 , 7 , 8 ). The average age of TS diagnosis varies widely from 4.1±5.1 years in the United State of America (USA) up to 13.74 years old in Albania ( 6 , 9 , 10 , 11 ).…”

“…A significant delay at initial diagnosis of TS has been well documented ( 3 , 6 , 7 , 8 ). The average age of TS diagnosis varies widely from 4.1±5.1 years in the United State of America (USA) up to 13.74 years old in Albania ( 6 , 9 , 10 , 11 ). Diagnosis in patients with a 45,X karyotype is usually made at an earlier age than other variants ( 9 ).…”

“…Patients with TS are reported to have a higher frequency of autoimmune diseases, including autoimmune thyroid disease and celiac disease ( 30 , 31 , 32 , 33 ). Several researchers in Europe have reported increased levels of antithyroid antibodies in patients with TS, the frequency ranging from 36 to 64.8% ( 6 , 30 , 31 , 32 , 33 , 34 , 35 ). Of these, 21.2-70.4% were reported to have subclinical or clinical hypothyroidism ( 30 , 31 , 33 , 34 , 35 ).…”