Introduction: Turner syndrome is a chromosomal abnormality that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome. In this genetic disease, the karyotype ranges from complet 45, X to forms of mosaicism in which a normal cell line (46, XX or 46, XY) or a second (or third) abnormal cell line is found. Mosaic turner syndrome (MTS) has a heterogeneous clinical presentation as well as a varied presence of malformations and associated diseases . Our aim was to describe the clinical, malformative and the cytogenetic characteristics of MTS in our Hospital centre.
Patients and methods: Descriptive, transversal study of female patients followed for MTS in Mohammed VI University Hospital Centre Oujda.
Results: This study included 5 patients. The average age at diagnosis was 24.04±17.05 years. MTS was diagnosed before puberty in 2 patients and in adulthood in 3 patients. Patients had a short stature (100%), primary amenorrhea (40%) and a characteristic facial appearance of TS (60%). Cytogenetic analysis showed for all patients, a form of mosaicism with a double cell population, including one monosomy X. An isochromosome of long arm of X chromosome was found (40%) as well as a deletion of long arm of X chromosome. Analysis by fluorescent in situ hybridization (FISH) detected, in one patient, the presence of an X chromosome without SRY (30% of cells observed) and a copy of the X chromosome with two copies of the SRY locus on a small chromosomal marker related to an isochromosome of the short arm of the Y chromosome. Diseases associated with MTS were diabetes mellitus (20%), autoimmune peripheral hypothyroidism (20%), celiac disease (20%), arterial hypertension (20%) and repetitive otitis with repetition with transmission deafness (40%). Our patients had not cardiac and renal malformations. Growth hormone therapy was initiated in two patients whose disease had been diagnosed before puberty.
Discussion and conclusion: MTS is a rare genetic condition. Its diagnosis is made inperi-pubertalperiod or in adulthood in our context, following exploration of a short stature or a primary amenorrhea. Its clinical presentation is heterogeneous and according to cytogenetic profile. Malformations do not seem common in patients with this disease
Reference: 1. Claus H Gravholt, Niels H Andersen, Gerard S Conway and et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177: G1G70.
18 - 21 May 2019
European Society of Endocrinology