Turner Syndrome Scotland had a Paternal Age Effect and England did not ONE MECHANISM OF ORIGIN MAY BE INCREASING PATERNAL AGE

1: Clin Genet. 1989 Jul;36(1):53-8. Links
An aetiological study of isochromosome-X Turner's syndrome.Carothers AD, De Mey R, Daker M, Boyd E, Connor M, Ellis PM, Stevenson D.
Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, U.K.

In an attempt to resolve conflicting evidence from the literature concerning the existence of a paternal age effect in 46,X,i(Xq) Turner's syndrome, we have analysed data on all known cases ascertained in the main population centres of Scotland and on others ascertained in England, using population controls matched for year of birth. There was a significant (P = 0.02) increase of 2.3 years in the mean paternal age of the Scottish cases, and a smaller and non-significant increase in their mean maternal age. Logistic regression analysis confirmed that the primary association was with paternal, rather than maternal, age. For the English cases, however, there were small and non-significant decreases in their mean maternal and paternal ages. The differences between the two groups were also significant, but cannot be explained by any likely source of ascertainment bias. We therefore conclude that there is no evidence for a universal paternal age effect in this condition, but that at least one mechanism of origin, occurring with variable frequency, may be associated with increased paternal age. Using data from this and earlier published studies, we estimate the incidence of individuals with a 46,X,i(Xq) cell line to be between 3.3 and 13 per 10(5) female livebirths.

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Clin Endocrinol (Oxf). 2004 Feb;60(2):272. Links
The prevalence of diabetes mellitus in the parents of women with Turner's syndrome.Bakalov VK, Cooley MM, Troendle J, Bondy CA.

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J Pediatr Endocrinol Metab. 2002 Sep-Oct;15(8):1203-6. Links
Type 1 diabetes mellitus in a 3 1/2 year-old girl with Turner's syndrome.Gonc EN, Ozon A, Alikasifoglu A, Kandemir N.
Pediatric Endocrinology Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Turner's syndrome is associated with autoimmune disorders. Autoimmune endocrinopathy in Turner's syndrome seems to be limited to autoimmune thyroiditis. A small number of patients with Turner's syndrome has also been associated with celiac disease, inflammatory bowel disease and juvenile rheumatoid arthritis. Type 1 diabetes mellitus in Turner's syndrome has been rarely reported. We present here the youngest patient with Turner's syndrome who developed type 1 diabetes mellitus. At the age of 3.5 years she was hospitalized with diabetic ketoacidosis. Anti-islet cell and anti-insulin antibodies were positive and C-peptide level was low. When she was investigated for recurrent urinary tract infections, horseshoe kidney was detected by ultrasonography. Karyotype analysis revealed 45,XO. She has been followed for 2 years with an insulin dose of 0.9 U/kg per day. The prevalence of type 1 diabetes mellitus associated with Turner's syndrome is still unknown.

PMID: 14725692 [PubMed - indexed for MEDLINE]


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1: Clin Exp Rheumatol. 1998 Jul-Aug;16(4):489-94. Links
Comment in:
Clin Exp Rheumatol. 2000 Mar-Apr;18(2):267-8.
Juvenile arthritis in Turner's syndrome: a multicenter study.Zulian F, Schumacher HR, Calore A, Goldsmith DP, Athreya BH.
Department of Pediatrics, University of Padova, Italy.

OBJECTIVE: Turner's syndrome (TS) is a disorder associated with characteristic defects in the X chromosome. Autoimmune conditions such as thyroiditis, inflammatory bowel diseases and diabetes have been described in association with TS. METHODS: We have studied the association between TS and juvenile arthritis (JA) by using a survey in which 28 pediatric rheumatology centers (15 in the USA, 10 in Europe, and 3 in Canada) participated. RESULTS: Eighteen cases of TS in a population of approximately 15,000 JRA patients have been found. Two different patterns of arthritis were present: polyarticular (7) and oligoarticular (11). Children with polyarticular disease had early onset, seronegative, progressively deforming arthritis and growth retardation. Those with oligoarticular arthritis had a benign course and were ANA+ (8/11). The oligoarticular children had varying karyotypes whereas almost all of the polyarthritic patients shared the same 45X0 karyotype (6/7). The light and electron microscopic studies of synovium performed in two patients showed chronic inflammation and hyperplasia of the synovial lining cells, vascular proliferation and infiltration with lymphocytes, plasma cells and mononuclear phagocytes. CONCLUSION: Juvenile arthritis is a new autoimmune condition association with Turner's syndrome. The prevalence seems to be at least six times greater than would be expected if the two conditions were only randomly associated. This is the first description of the synovium in Turner's syndrome; no differences from other forms of juvenile rheumatoid arthritis were found.
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Clin Exp Rheumatol. 1997 Nov-Dec;15(6):701-3. Links
Delayed diagnosis of juvenile rheumatoid arthritis in a girl with Turner's syndrome.Foeldvari I, Wuesthof A.
University Children's Hospital, Hamburg, Germany.

Although increased risk for autoimmune diseases has been documented in Turner's syndrome (TS), the involvement of juvenile rheumatoid arthritis (JRA) has rarely been reported. A detailed case description of JRA associated with Turner's syndrome is presented as the second such case report in the literature. The arthritis was diagnosed 8 years after its onset due to the confounding of its symptoms with those of TS
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1: Am J Med Genet. 2000 Jun 12;96(3):312-6. Links
Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.Donnelly SL, Wolpert CM, Menold MM, Bass MP, Gilbert JR, Cuccaro ML, Delong GR, Pericak-Vance MA.
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/International Classification of Diseases (ICD-10) criteria for AD verified by the Autism Diagnostic Interview-Revised. The patient exhibited both social and verbal deficits and manifested the classical physical features associated with monosomy X. Skuse et al. [1997: Nature 387:705-708] reported three such cases of AD and monosomy X in their study of Turner syndrome and social cognition. They observed that monosomy X females with a maternally inherited X chromosome had reduced social cognition when compared with monosomy X females with a paternally inherited X chromosome. All three cases of AD and monosomy X were maternally inherited. Based on their data, they suggested that there was a gene for social cognition on the X chromosome that is imprinted and not expressed when the X chromosome is of maternal origin. Thus, we conducted parent-of-origin studies in our AD/monosomy X patient by genotyping X chromosome markers in the patient and her family. We found that the patient's X chromosome was of maternal origin. These findings represent the fourth documented case of maternal inheritance of AD and monosomy X and provide further support for the hypothesis that parent-of-origin of the X chromosome influences social cognition.

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Nature. 1997 Jun 12;387(6634):705-8. Links
Comment in:
Nature. 1997 Jun 12;387(6634):652-3.
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs PA.
Behavioural Sciences Unit, Institute of Child Health, London, UK. dskuse@ich.ucl.ac.uk

Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted. Intelligence is usually normal but social adjustment problems are common. Here we report a study of 80 females with Turner's syndrome and a single X chromosome, in 55 of which the X was maternally derived (45,X[m]) and in 25 it was of paternal origin (45,X[p]). Members of the 45,X[p] group were significantly better adjusted, with superior verbal and higher-order executive function skills, which mediate social interactions. Our observations suggest that there is a genetic locus for social cognition, which is imprinted and is not expressed from the maternally derived X chromosome. Neuropsychological and molecular investigations of eight females with partial deletions of the short arm of the X chromosome indicate that the putative imprinted locus escapes X-inactivation, and probably lies on Xq or close to the centromere on Xp. If expressed only from the X chromosome of paternal origin, the existence of this locus could explain why 46,XY males (whose single X chromosome is maternal) are more vulnerable to developmental disorders of language and social cognition, such as autism, than are 46,XX females.

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Pathol Int. 2007 Apr;57(4):219-23. Links
Sudden death of a young woman due to aortic dissection caused by Turner's syndrome.Mimasaka S, Ohtsu Y, Tsunenari S, Matsukawa A, Hashiyada M, Takahashi S, Funayama M.
Department of Forensic Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. Mimasaka9@aol.com

A 24-year-old woman was found dead in her bed. There had been an episode of fainting with cervicodynia 1 day before death but no significant past medical history, except for menstrual irregularities. Post-mortem examination revealed that death was due to hemopericardium caused by rupture of the ascending aorta by thoracic aortic dissection (Stanford type A). Microscopically, weakness of the aorta was due to cystic medial necrosis. On external examination, short stature, a short neck and multiple pigmented nevi were observed, while internal examination revealed coarctation of the aorta and funicular ovaries. Examination of the X chromatin showed a decrease in numbers of Barr bodies in the tissues, and a 45,X/46,XX mosaicism was suspected. It is concluded that the cause of death was aortic dissection due to Turner's syndrome.

PMID: 17316418 [PubMed - indexed for MEDLINE]