Endocrine Abstracts

Introduction: Turner syndrome (TS) is the most common chromosomal abnormality in women. It occurs in 1/2500 to 1/3000 live-born females and results from a total or partial absence of the X chromosome. The clinical manifestations are diverse and TS is accompanied by multiple medical problems.

Methods: We analysed retrospectively six cases of women with TS aged 20–66 years, treated at Endocrinology Department between 2003 and 2014, to describe endocrine disorders in such patients. In the studied subjects, the diagnosis of TS was made in childhood (one patient), in adolescence (three cases) or in adulthood (two women), based on clinical symptoms and genetic tests.

Results: Short stature was diagnosed in all patients, three of them received recombinant human GH. The average height was 152.5±6.53 cm. None of women were obese (BMI: 24.12±2.88 kg/m²). We stated primary amenorrhea in five patients, in one case premature ovarian insufficiency was observed. Clitoromegaly was found in one patient, in another case leukoplakia vulvae was diagnosed. Sex hormone replacement therapy was used by four women, two the oldest non-treated patients suffered from osteoporosis. Hypothyroidism due to Hashimoto’s thyroiditis developed in five cases and they used levothyroxine. Diabetes mellitus (type 1 and type 2) appeared in two women. Patient with type 1 diabetes had many diabetic complications such as: coronary heart disease, cerebrovascular disease, peripheral vascular disease, sensory neuropathy, diabetic amyotrophy, glaucoma, cataract. One women was operated because of non-functioning pituitary adenoma. Moreover other non-endocrine diseases were observed, including: coeliac disease (two cases), hypertension (three patients), mitral incompetence and tricuspid regurgitation (one woman), impaired hearing (two subjects), ectopic or horseshoe kidney (two cases). The intellectual performance was within the normal range in four women, two patients were mentally retarded.

Conclusion: Most of subjects with TS have hormonal disorders. Therefore, endocrine care is needed to optimise patients’ treatment.