International Journal of Anatomy Radiology and Surgery (Jun 2014)
Turner Syndrome: Update the Paradigm of Diagnosis, Clinical Care and Consequences of Y cell lines
Abstract
Turner’s syndrome (TS) is a common chromosomal aneuploidy, present in humans with an incidence rate of 1:2500 of the new-born infants with phenotypic females. It is due to sex chromosomal monosomy with 45X karyotype, characterized by short stature, primary amenorrhea and specific somatic abnormalities, present in more than 60% of the cases. Rest of the cases presented with chromosomal mosaicism in which 45X cell line is accompanied by structurally abnormal X/Y chromosomes. The presence of Y chromosome material in TS patients has ovarian dysgenesis, which increases the risk of developing gonadoblastoma and other germ cell tumours. The Y derived sequences produce virilization characteristics in TS females during puberty. Even though gonadoblastoma is a benign tumour, it undergoes transformation into malignant dysgerminoma in 60% of the patients. So mosaicism of both X/Y chromosomes is common in TS and detection of Y-specific sequences is necessary to prevent development of gonadal tumours. Prophylactic gonadectomy should be recommended in Turner’s patients with Y chromosomal mosaicism. TS patients should be investigated with polymerase chain reaction (PCR) which is highly sensitive, cost effective and easy to perform in addition to routine cytogenetic analysis to detect Y chromosomal sequences. Fluorescence In Situ Hybridization (FISH) using specific chromosomal probes is also used to confirm the cytogenetic results. A revised paradigm using a standard multi-disciplinary approach is essential in the management of TS females based on the knowledge, awareness and adverse outcome of various organ systems from birth to adulthood. This modified approach gives an optimized medical care for all Turner’s syndrome patients to reduce the morbidity and mortality, and make them happy, healthy and to lead an independent life as useful and productive members of the society. A thorough Pubmed and other related search for over the past 15 years identified the available studies related to clinical features, diagnosis, management as well as the consequences of the Y-derived sequences of TS. This clinical review summarizes the inputs of various studies through 2013 and highlights recent developments.
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