Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?

Abstract

Objective: The objective of the present study was to describe the phenotypic features of Turner syndrome (TS) and to investigate the relationship between the genotype and the phenotype. Materials and Methods:We studied 26 female patients who were enrolled between 2006 and 2015. Physical features, clinical history, laboratory findings, and imaging test results were recorded. Chromosomal analysis was performed on peripheral blood lymphocyte cultures of the patients. Results:The mean age of the study population was 10.4±5.6 years (range, 1 day to 17 years). Three patients were diagnosed in the neonatal period. Although the most common phenotypic feature was short stature (92.3%), the characteristic stigmatas were usually seen in the 45, X karyotype. Among the 26 patients, monosomy 45, X was detected in 7 (26.9%) of them. Eleven percent of our patients had 46,X,i(X) (isochromosome Xq), while the rest demonstrated mosaic karyotypes [45,X/46,XY (19.2%); 45,X/46,XX (11.5%); 45,X/46,X,i(X) (11.5%); 45,X/46,XX,r(X) (7.7%); 45,X/46,X,i(Y) (3.8%); 45,X/47,XXX (3.8%); and 45,X/46,XX del(Xp) (3.8%)].Conclusion: TS is one of the most common sex chromosome abnormalities, but it is frequently underdiagnosed. The frequency of the monosomy 45, X karyotype in TS is less than previously thought. Therefore, patients should be evaluated by chromosome analysis in case there is clinical suspicion.

Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients

“…12,20,21 Thus, early intervention should be done for orchidectomy. 22 In this study we observed 1 patient with marker chromosome 45,X(98%)/46,X mar(2%) with clinical profile of this patient showed short stature and no other dysmorphic features, compared to the previous study which reported severe phenotype manifestations in those type of Turner variants, 16 this could be due to the low percentage of marker X. Although, the conventional cytogenetic cannot detect the origin of marker chromosome, the molecular cytogenetic techniques, FISH, can accurately detect it.…”

“…Although, the conventional cytogenetic cannot detect the origin of marker chromosome, the molecular cytogenetic techniques, FISH, can accurately detect it. 16,17 In this study we observed a patient with translocation between chromosome 1 and X. Besides primary amenorrhea, patient also had short stature.…”

“…This result was in line with previous studies which reported that Turner Syndrome is the most common observed chromosomal abnormality in primary amenorrhea and also strengthened the role of sex chromosome in the reproduction of female. 4,9,16 The previous result revealed that classical Turner Syndrome detected in 30% (16/52) of primary amenorrhea patients in Turkish population, 16 and 26.9% (7/ 26) of Indian patients. 1,4,12,17 In current study Turner syndrome was detected in 17 out of 18.The high percentage of Turner Syndrome in our study could be due to patients selection and lack of genetic diagnostic in many referral hospitals in Java Island.…”

“…The possible explanation for this issue that the physical manifestations of Turner Syndrome patients largely depends on the karyotype. 16 The cause of short stature in Turner Syndrome suggested to be a homeobox gene, short stature homeobox (SHOX) gene in the pseudoautosomal region 1 (PAR1) is the major player and that haploinsuffiency of this gene leads to the growth failure. 16,20 The other possible cause of short stature in Turner syndrome is inadequate production ofEstrogen,many of those with Turner Syndrome developosteoporosis.This can decrease height further, as well as exacerbate the curvature of the spine.…”

“…16 The cause of short stature in Turner Syndrome suggested to be a homeobox gene, short stature homeobox (SHOX) gene in the pseudoautosomal region 1 (PAR1) is the major player and that haploinsuffiency of this gene leads to the growth failure. 16,20 The other possible cause of short stature in Turner syndrome is inadequate production ofEstrogen,many of those with Turner Syndrome developosteoporosis.This can decrease height further, as well as exacerbate the curvature of the spine. 14,20 Mosaic Turner Syndrome with XY constitution seen in 11.7% (2/17) of the patients, detection of Y chromosome and its component is very important due to the risk of gonadoblastoma since the risk is quite high ranging from 10 to 20%.…”