Affiliation:
1. DEPARTMENT OF INTERNAL MEDICINE II, DIVISION OF ENDOCRINOLOGY AND METABOLISM, SAALFELD/SAALE, GERMANY
2. DEPARTMENT OF INTERNAL MEDICINE II, DIVISION OF GASTROENTEROLOGY, SAALFELD/SAALE, GERMANY
Abstract
Turner syndrome can be manifest with a considerable genetic and phenotypic variability. This merely accounts for about 50% of patients who do not have the “classic” 45
X genotype. We report the case of a 42-year-old female patient with a 46, X, del (X) q 21 genotype (deletion on the second X chromosome on the long arm). As the patient
displayed a non-typical phenotype and was infertile, a diagnosis was established at the age of 24 with no follow-up treatment. As part of our therapy of the individual due to
newly manifested diabetes mellitus, our diagnostic workup revealed a severe metabolic syndrome encompassing fatty liver disease, obstructive sleep apnea syndrome and
hyperuricemia. Our observations should sensitize physicians treating female patients for one or more aspects of the metabolic syndrome and its presence in Turner syndrome.
These patients have an unfavorable cardiovascular profile, in part due to the metabolic syndrome, but also due to factors intrinsic to Turner syndrome.