Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness

2017 ◽  
Vol 153 (2) ◽  
pp. 66-72
Author(s):  
Saadia Amasdl ◽  
Wiam Smaili ◽  
Abdelhafid Natiq ◽  
Amale Hassani ◽  
Aziza Sbiti ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Short Stature ◽  
X Chromosome ◽  
Chromosome Region ◽  
Sensorineural Deafness ◽  
Bone Age ◽  
Chondrodysplasia Punctata ◽  
Y Chromosomes ◽  
Contiguous Gene ◽  
Potential Evaluation

Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes.

scholarly journals IGF-1 Haploinsufficiency Causes Age-Related Chronic Cochlear Inflammation and Increases Noise-Induced Hearing Loss

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1686
Author(s):  
Adelaida M. Celaya ◽  
Lourdes Rodríguez-de la Rosa ◽  
Jose M. Bermúdez-Muñoz ◽  
José M. Zubeldia ◽  
Carlos Romá-Mateo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Inflammatory Cytokines ◽  
Noise Exposure ◽  
Sensorineural Deafness ◽  
Serum Levels ◽  
Genetic Syndromes ◽  
Expression Ratio ◽  
Postnatal Maturation ◽  
Age Related ◽  
Underlying Mechanisms

Insulin-like growth factor 1 (IGF-1) deficiency is an ultrarare syndromic human sensorineural deafness. Accordingly, IGF-1 is essential for the postnatal maturation of the cochlea and the correct wiring of hearing in mice. Less severe decreases in human IGF-1 levels have been associated with other hearing loss rare genetic syndromes, as well as with age-related hearing loss (ARHL). However, the underlying mechanisms linking IGF-1 haploinsufficiency with auditory pathology and ARHL have not been studied. Igf1-heterozygous mice express less Igf1 transcription and have 40% lower IGF-1 serum levels than wild-type mice. Along with ageing, IGF-1 levels decreased concomitantly with the increased expression of inflammatory cytokines, Tgfb1 and Il1b, but there was no associated hearing loss. However, noise exposure of these mice caused increased injury to sensory hair cells and irreversible hearing loss. Concomitantly, there was a significant alteration in the expression ratio of pro- and anti-inflammatory cytokines in Igf1+/− mice. Unbalanced inflammation led to the activation of the stress kinase JNK and the failure to activate AKT. Our data show that IGF-1 haploinsufficiency causes a chronic subclinical proinflammatory age-associated state and, consequently, greater susceptibility to stressors. This work provides the molecular bases to further understand hearing disorders linked to IGF-1 deficiency.

scholarly journals Can exaggerated response to a GH provocative test identify patients with partial GH insensitivity syndrome?

2002 ◽  
pp. 319-323 ◽  
Author(s):  
Y Rakover ◽  
A Silbergeld ◽  
I Lavi ◽  
R Masalha ◽  
IB Shlomo
Keyword(s):  
Short Stature ◽  
Binding Protein ◽  
Standard Deviation Score ◽  
Bone Age ◽  
The Other ◽  
Provocative Test ◽  
Igf I ◽  
Parental Height ◽  
The Difference ◽  
Igfbp 3

OBJECTIVES: In the majority of children with short stature, the etiology is unknown. Mutations of the GH receptor (GHR) have been reported in a few children with apparent idiopathic short stature (ISS). These patients had low IGF-I, IGF-binding protein-3 (IGFBP-3) and GH-binding protein (GHBP), but a normal or exaggerated GH response to provocative stimuli, suggestive of partial GH insensitivity (GHI). We attempted to identify children with partial GHI syndrome, based on their response to GH provocative stimuli and other parameters of the GH-IGF-I axis. SUBJECTS AND METHODS: One hundred and sixty-four pre-pubertal children (97 boys, 67 girls) aged 7.2 (0.5-16.75) years were studied. All had short stature with height <3rd centile. The weight, bone age (BA) and body mass index (BMI) of the subjects, as well as the parents' heights and mid parental height (MPH) were assessed. Basal blood samples were taken for IGF-I, IGFBP-3 and GHBP. All subjects underwent a GH provocative test with either clonidine, arginine or insulin. The subjects were divided into three groups: (A) patients with peak GH concentration <18 mIU/l in two different provocative tests (GH deficiency - GHD, n=33); (B) patients with peak GH between 18.2 and 39.8 mIU/l (normal response, n=78); (C) patients with peak GH >40 mIU/l (exaggerated GH response, n=53). RESULTS: No significant differences were found in age, height (standard deviation score (SDS)), parental height (SDS) and the difference between chronological age and bone age (DeltaBA) between the groups. Patients with GHD were heavier (P=0.039) and had significantly higher BMI (SDS) (P=0.001) than the other groups. MPH (SDS) was lower in the group of exaggerated responders (P=0.04) compared with the other groups. No significant differences were found between the groups for the biochemical parameters when expressed nominally or in SDS, except for IGFBP-3 (SDS), which was lower in the GHD group (P=0.005). The GHBP levels were not lower in the group of exaggerated GH response to provocative stimuli. Height (SDS) correlated negatively with basal GH values in pooled data of all the subjects (r=-0.358, P<0.0001), in normal responders (r=-0.45, P<0.0001) and in the exaggerated responders (r=-0.341, P<0.0001), but not in the GHD group. CONCLUSION: Exaggerated GH response to provocative tests alone does not appear to be useful in identifying children with GHI.

649 high frequency of X chromosome abnormalities in short stature women with unexplained elevated liver enzymes

2006 ◽  
Vol 44 ◽  
pp. S240-S241
Author(s):  
D. Roulot ◽  
V. Malan ◽  
V. Bourcier ◽  
B. Benzacken ◽  
M. Ziol ◽  
...  
Keyword(s):  
Short Stature ◽  
X Chromosome ◽  
High Frequency ◽  
Liver Enzymes ◽  
Chromosome Abnormalities ◽  
Elevated Liver Enzymes

scholarly journals Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nami Mohammadian Khonsari ◽  
Sahar Mohammad Poor Nami ◽  
Benyamin Hakak-Zargar ◽  
Tessa Voth
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Hormone Receptors ◽  
Bone Growth ◽  
Synergistic Effects ◽  
Signs And Symptoms ◽  
Bone Age ◽  
Pathogenic Mutation ◽  
Paracrine Factors ◽  
Severe Short Stature

Abstract Background Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead to Laron syndrome (LS), one of the several disorders that are collectively called growth hormone insensitivity syndrome (GHI). Another example is Floating-Harbor syndrome (FHS), a rare autosomal dominant due to mutations in the SRCAP gene that can also result in short stature. Case presentation We report the case of a 6-year-old female with concomitant mutations in the three genes mentioned above. The mutations reported here were found on genetic studies and are usually benign, causing a variant of undetermined significance. However, our patient’s phenotype could only be explained by the compounded effects of pathogenic mutations of these genes. Some of the same mutations were also found in the patient’s father and her paternal grandfather. Both also presented with short stature, though not to the same degree as our patient. While these mutations are often reported to be insignificant, they gave rise to severe short stature and a specific phenotype in the patient when presented together. We think that even though the GHI spectrum is inherited through an autosomal recessive pattern, the sum of these heterozygous mutations resulted in severe short stature despite the limited GHI seen in our patient, the father, and the grandfather, through a rare ACAN and SRCAP mutation that, to our knowledge, has not been previously reported as a pathogenic mutation in the literature. Conclusion We investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case.

scholarly journals Turner Syndrome, Uncommonly Diagnosed Cause of Short Stature: Case Report and Review of Literature

2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Turner Syndrome ◽  
Age Estimation ◽  
Bone Age ◽  
Review Of Literature ◽  
X Ray ◽  
Dysmorphic Features ◽  
The Past ◽  
Hormone Analysis

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76

Hearing loss in diabetics

1993 ◽  
Vol 107 (3) ◽  
pp. 179-182 ◽  
Author(s):  
J. R. Cullen ◽  
M. J. Cinnamond
Keyword(s):  
Hearing Loss ◽  
Sensorineural Deafness ◽  
Insulin Dosage ◽  
Speech Discrimination ◽  
Low Frequencies ◽  
High Frequencies ◽  
History Of ◽  
Insulin Dependent ◽  
Stapedial Reflex ◽  
The Relationship

The relationship between diabetes and senbsorineural hearing loss has been disputed. This study compares 44 insulin-dependent diabetics with 38 age and sex matched controls. All had pure tone and speech audiometry performed, with any diabetics showing sensorineural deafness undergoing stapedial reflecx decat tests. In 14 diabetics stapedial reflex tests showed no tone decay in any patient, but seven showed evidence of recruitment. Analysis of vaiance showed the diabetics to be significantly deafer than the control population.The hearing loss affected high frequencies in both sexes, but also low frequencies in the male. Speech discrimination scores showed no differences. Further analysis by sex showed the males to account for most of the differences. Analysys of the audiograms showered mostly a high tone loss. Finally duration of disbetes, insulin dosage and family history of diabtes were not found to have a significant effect on threshold.

Azathioprine in Combination with Steroids in the Treatment of Autoimmune Inner-Ear Disease

1993 ◽  
Vol 21 (4) ◽  
pp. 192-196 ◽  
Author(s):  
Aytac Saraçaydin ◽  
Sedat Katircioğlu ◽  
Sami Katircioğlu ◽  
M Can Karatay
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Sensorineural Deafness ◽  
Sensorineural Hearing ◽  
Once Daily ◽  
Uncommon Disease ◽  
Inner Ear Disease ◽  
Pure Tones ◽  
Autoimmune Inner Ear Disease

A total of twelve patients with a relatively uncommon form of progressive sensorineural deafness (autoimmune innerear disease) were treated orally with 1 mg/kg azathioprine, once daily, and with 30 mg prednisolone, every other day, for 4 weeks. Statistically significant increases in the ability to hear pure tones or in discrimination on audiometry took place in 10/12 patients. This condition was initially described as ‘sensorineural hearing loss', but it is now clear that the term ‘autoimmune inner-ear disease’ is more appropriate since the vestibular compartment as well as the cochlear compartment is involved. This relatively uncommon disease is one of the few forms of sensorineural deafness that can be successfully treated.

Determine the Frequency of Sensorineural Deafness in Children with Cerebral Palsy

2021 ◽  
Vol 15 (6) ◽  
pp. 1478-1481
Author(s):  
A. G. Magsi ◽  
M. U. Rehman ◽  
F. A. Soomro ◽  
Z. Ahmed ◽  
A. Q. Memon
Keyword(s):  
Hearing Loss ◽  
Cerebral Palsy ◽  
Sensorineural Deafness ◽  
Inclusion Criteria ◽  
Profound Hearing Loss ◽  
College Hospital ◽  
Cross Sectional ◽  
Medical College ◽  
Hearing Assessment ◽  
Normal Head

Aim: To determine the frequency of sensorineural deafness in child with cerebral palsy. Study Design: Descriptive/cross-sectional Place and Duration of Study: Department of Neurology, Chandka Medical College Hospital, Larkana from 1st October 2020 to 31st March 2021. Methodology: One hundred and seventy patients of both genders age between 1-14 years were enrolled. Children diagnosed as having cerebral palsy and fulfilling the inclusion criteria was included. Hearing assessment was done with audiometry and degree of hearing loss was recorded in both ears in the form of mild, moderate, severe and profound degree of hearing loss. Results: Most of the patients 90 (52.94%) were between 1-5 years old followed by 51(30%) patients between 5-10 years with mean age of 4.8±7.8 years. 115 (67.65%) cases were males and 55 (32.35%) females. 54 (31.8%) cases had microcephaly and116 (68.2) cases had normal head circumference. Among 170 cases of cerebral palsy 48 (28.23%) cases had hearing loss and 122 (71.77%) of patients of CP had no hearing deficit. Among 48 cases of CP with hearing loss 15 (31.25%) cases had mild, 14 (29.17) cases had moderate, 10 (20.83%) had severe and 11 (22.92%) cases had profound hearing loss. Conclusion: The frequency of sensorineural deficit is high and significantly associated with cerebral palsy patients. Keywords: Degree of hearing loss, Sensorineural hearing loss, Cerebral palsy

Relationship Between Bilirubin and Hearing Loss

PEDIATRICS ◽  
1986 ◽  
Vol 77 (6) ◽  
pp. 929-930
Author(s):  
LINDA S. DE VRIES
Keyword(s):  
Hearing Loss ◽  
High Risk ◽  
Sensorineural Deafness ◽  
Hyaline Membrane Disease ◽  
Unusual Event ◽  
Hyaline Membrane

In Reply.— We were most interested in Gallaher and Maisels' comments on our paper. Although they mention that sensorineural deafness is an unusual event in their experience, they do not provide us with an incidence and also do not mention their method for testing hearing. Most of our infants, were classified as high risk because they required ventilation for hyaline membrane disease. The ten deaf infants who were high risk and their ten matched controls were all ventilated.

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