Behavioral Assessment of Central Auditory Processing in Turner Syndrome

Abstract Introduction Turner syndrome (TS) affects ~ 1 in 2,500 live births. The presence of hearing alterations is one of the comorbidities found in this syndrome. Objective The present study aimed to evaluate the central auditory abilities in TS and to associate the alterations found with the cytogenetic pattern of the syndrome. Methods We included children and adults aged 9 to 39 years old, diagnosed with TS, with numerical or structural alterations of sex chromosomes in their karyotype. A battery of behavioral tests of central auditory processing (CAP) was performed, including a test within the modalities: monoaural low-redundancy, dichotic listening, binaural interaction, and temporal processing (resolution and ordering). We studied auditory skills in the total sample and in the sample stratified by age, divided into groups: G1 (9 to 13 years old), G2 (14 to 19 years old), and G3 (20 to 31 years old). For the association of the cytogenetic pattern, the division was T1 (chromosome monosomy X), and T2 (other TS cytogenetic patterns). Statistical analysis presented data expressed as median and interquartile range for numerical data and as frequency and percentage for categorical data. Results We found alterations in four auditory skills in the three age groups, but there was a statistically significant difference between the age groups only in the Gaps in Noise Test (GIN) (p-value = 0.009). Regarding karyotype, a greater number of alterations in the T1 cytogenetic pattern (chromosome monosomy X) was observed in four auditory skills, but without a statistically significant difference. Conclusion The alterations found point to an impairment in CAP in TS.

Efeito inibitório da via auditiva eferente na síndrome de Turner / Efferent Auditory Pathways Inhibition in Turner syndrome

RESUMO Objetivo investigar o efeito inibitório da via auditiva eferente na síndrome de Turner e relacionar com o perfil citogenético. Método estudo descritivo transversal com grupo de comparação. Amostra: Grupo estudo formado por 40 pacientes com síndrome de Turner (17,6 anos); e Grupo controle constituído por 54 indivíduos (18,9 anos), do sexo feminino sem síndrome. Os indivíduos selecionados foram submetidos à pesquisa do efeito inibitório da via auditiva eferente. Resultados A média do Efeito inibitório da via auditiva eferente no grupo estudo na orelha direita foi 0,4 dB e no grupo comparação foi de 1,9 dB, entretanto na orelha esquerda a média do efeito inibitório da via auditiva eferente foi 1,4 dB no grupo estudo e 0,8 dB no grupo comparação. O efeito inibitório da via auditiva eferente foi presente em 14 indivíduos com monossomia e em 15 com outras alterações citogenéticas. Conclusão No grupo estudo o valor do efeito inibitório da via auditiva eferente foi significantemente maior na orelha esquerda e significativamente menor que o grupo controle na direita. Não houve diferença significativa no efeito inibitório da via auditiva eferente entre os tipos de cariótipo.

ABSTRACT Purpose The goal of this study is to investigate the efferent auditory pathways inhibition in Turner's syndrome and to relate it to the cytogenetic profile. Methods This is a cross-sectional study with a comparison group. A sample with 94 participants divided into two groups: The study group was a sample of 40 patients diagnosed with Turner's syndrome (17.6 years of age). The control group was composed of 54 volunteers (18.9 years of age), female, without syndrome. The selected individuals were submitted to efferent auditory pathways inhibition research. Results The mean of the inhibitory effect of the efferent auditory pathway in the study group in the right ear was 0.4 dB and in the comparison group it was 1.9 dB, however in the left ear the mean of the inhibitory effect of the efferent auditory pathway was 1.4 dB in the study group and 0.8 dB in the comparison group. The inhibitory effect of the efferent auditory pathway was present in 14 individuals with monosomy and in 15 with other cytogenetic alterations. Conclusions In the study group, the efferent auditory pathways inhibition value was significantly higher in the left ear and significantly lower than the control group in the right ear. There was no significant difference in efferent auditory pathways inhibition of right ear and left ear between the karyotype types.

45,X/46,XY Mosaicism in an 18-year-old girl with primary Amenorrhea: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.

High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46, XY mosaicism

The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.

Clinical and genetic features of 45,X maleness: A case report and review of the literature / 中华男科学杂志

Objective@#To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.@*METHODS@#Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.@*RESULTS@#GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1－).@*CONCLUSIONS@#The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFa－ d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.

Molecular analysis of an idic(Y)(qter -->p11.32:: p11.32-->qter) chromosome from a female patient with a complex karyotype

A female patient with a structurally abnormal idic(Y) (p11.32) chromosome was studied using fluorescence in situ hybridization and PCR to define the precise position of the breakpoint. The patient had a complex mosaic karyotype with eight cell lines and at least two morphologically distinct derivatives from the Y chromosome. The rearrangement was a result of a meiosis I exchange between sister chromatids at the pseudoautosomal region, followed by centromere misdivision at meiosis II. Due to instability of the dicentric Y chromosome, new cell lines later arose because of mitotic errors occurring during embryonic development. Physical examination revealed a normal female phenotype without genital ambiguity, a normal uterus and rudimentary gonads which were surgically removed.

A Case of Variants of Turner syndrome Showing 46,X,inv(Y)/45,X Karyotype with Y Chromosome microdeletion / 대한산부인과학회지

46,X,inv(Y)/45,X mosaicism is a extremely rare sex chromosomal disorder. We experienced an unusual mosaic Turner syndrome case in a 29-years old Korean woman with a phenotypic female, primary amenorrhea and immature secondary sexual characteristics. Cytogenetic analysis including GTG banding revealed 46,X,inv(Y)(q11.2q12?)[15]/45,X[35] mosaicism, and X/Y chromosome Fluorescence in situ hybridization (FISH) analysis result was ish (SRY-,DYZ3-)[16]/ ish der(Y)del(Y)(q12)inv(Y)(p11.3q12)(SRY sp, DYZ3-)[4] and its meaning was coexistence of microdeletion and inversion of Y chromosome. To our knowledge, this karyotype may be a very rare variant of Turner syndrome, and we report this case with brief review of related literature.

A Case of Coincidental Gonadoblastoma and Dysgerminoma in 45X/47XYY Mosaic Turner Variant / 대한산부인과학회지

45X/47XYY mosaicism is a very rare sex chromosomal disorder with limited clinical information. We experienced an unusual mosaic syndrome in a 16-year old woman with a phenotypic female, short stature, and immature secondary sexual characteristics. We performed both gonadectomy and found a gonadoblastoma in one gonad and dysgerminoma in another gonad.

Duchenne Muscular Dystrophy in a Girl with Turner Syndrome: A case report

Duchenne Muscular Dystrophy (DMD) is an X-linked, recessive disorder characterized by progressive muscular weakness, Gower sign, waddling gait and pseudohypertrophy of the calf muscles. Little is reported about DMD manifestations in females because of its' X-linked, recessive inheritance. The authors described a 12-year-old female with gait disturbance. Her symptoms were diminished muscle power, decreased deep tendon reflexes, Gower sign and pseudohypertrophy of calf muscle. Serum creatinine kinase level was elevated to 1, 674 U/ml. Electromyographic findings were compatible with myopathy. Histopathologic examination of the muscles confirmed the diagnosis of DMD. The result of karyotyping was 45X, but multiplex PCR (Polymerase Chain Reaction) analysis showed normal findings.

An infertile 45,X male carrying an unbalanced(Y,13) translocation:A clinical cytogenetic and molecular study / 医学研究生学报

Objective: To report a case of azoospermia with a karyotype of 45,X,der(Y)t(Y;13)(q11.2;q12),-13,accompanied with slight bilateral gynecomastia and multiple nodules.Methods: The karyotype was identified by karyotyping and FISH,and the breakpoints of the Y chromosome and the copy number of the BRCA2 gene in 13q12 determined by PCR-STS and DNA polymorphic analysis.The testis and nodule tissues of the patient were obtained for biopsy.Results: FISH confirmed SRY and centromere of the Y chromosome on the questionable 13 chromosome and the karyotype to be 45,X,der(Y)t(Y;13)(q11.1;q12),-13.ish der(Y)(SRY+,DYZ3+,wcp13+).PCR-STS showed the deletion of regions AZFa,b and C,with a breakpoint located inYq11.1 below sY82.No deletion of the BRCA2 gene was observed.The patient was diagnosed with Sertoli cell-only syndrome by testicular biopsy and with angiolipomata by pathological examination of the nodule tissue.Conclusion: The patient's phenotype of complete masculinization could be attributed to presence of the SRY gene,and his azoospermia with small testis to the absence of a fragment from Yq11.1 to Yqter.However,the molecular mechanism of angiolipoma remains unknown.

A Case of Turner's Syndrome(45,X/46,XX) Associated with Patent Ductus Arteriosus

We described a 65-year-old female of 45,X/46,XX Turner's syndrome associated with patent ductus arteriosus who was admitted due to exertional dyspnea and palpitation. This patient had not spontaneous mensturation and had a short stature without webbed neck and a sexual infantilism. Chromosomal aberrations cause primarily structural defects of cardiovascular system, and a variety of structural aberrations involving the X chromosome can cause partial or complete Turner's syndrome. In Turner's syndrome, bicuspid aortic valve or coarctation of aorta is frequently combined, also aortic root dilatation, partial anomalous venous drainage, hypoplastic left heart, ventricular septal defect, atrial septal defect has been reported. However, this patient had not abnormality in aortic valve and whole aorta. Patent ductus arteriosus in 45,X/46,XX Turner's syndrome have not been reported in Korea. We report this case with a brief review of the literature.

45,X / 47,XYY Mosaic Turner Syndrome / 대한산부인과학회잡지

45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.

Nager Syndrome associated with 45,X Monosomy

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.