Hypothyroidism and growth hormone deficiency as a complication of Turner Syndrome: Case Report

Abstract

Turner syndrome is a rare disease with a global prevalence of 64 per 100 000 live births, due to the total or partial loss of a sex chromosome of the 45X pair, mosaic karyotype. It is associated with multiple complications such as hypothyroidism, growth hormone deficiency and other endocrine disorders. Case presentation: female patient, 27 years old, who since childhood presented severe growth problems, in addition to psychomotor problems; with the passage of time there was no improvement in her height for age, so a genetic disorder was suspected. At 9 years of age, a genetic karyotype test was performed and the diagnosis of Turner Syndrome was confirmed. To this diagnosis was added: hypothyroidism, hypogonadism and osteopenia of the hip and spine. Therefore, her treatment was mainly based on hormone replacement therapy with estrogen and progesterone derivatives, such as estradiol and medroxyprogesterone acetate until she was 16 years old; in addition to growth hormone. Over the years her clinical picture improved significantly, especially in her growth, reaching her final height of 1,49 cm.Conclusion: currently the patient remains stable with a lucid neurological condition, continues with her hormone replacement therapy for hypothyroidism and osteopenia