A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA
We report a monosomy 18p syndrome in a male patient with polyglandular autoimmune syndrome (PAS) type IIIA. A 34-year-old mentally retarded diabetic male patient with short stature, wide earlaps, old-looking face, straight nasal bone, atrophic mouth, drooping cheeks, full teeth loss, and soft, weak...
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| Language: | English |
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Sciendo
2013-06-01
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| Series: | Balkan Journal of Medical Genetics |
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| Online Access: | https://doi.org/10.2478/bjmg-2013-0023 |
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doaj-0333493b021b473ea71a232e58b522c52021-09-05T21:00:30ZengSciendoBalkan Journal of Medical Genetics1311-01602013-06-01161818310.2478/bjmg-2013-0023A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIADolek-Cetinkaya D0Demirpence M.M.1Gorgel A2Salgur F3Bahceci M4Division of Endocrinology and Metabolism, Ataturk Training and Research Hospital, Izmir, TurkeyDivision of Endocrinology and Metabolism, Ataturk Training and Research Hospital, Izmir, TurkeyDivision of Endocrinology and Metabolism, Ataturk Training and Research Hospital, Izmir, TurkeyDivision of Endocrinology and Metabolism, Ataturk Training and Research Hospital, Izmir, TurkeyDivision of Endocrinology and Metabolism, Ataturk Training and Research Hospital, Izmir, TurkeyWe report a monosomy 18p syndrome in a male patient with polyglandular autoimmune syndrome (PAS) type IIIA. A 34-year-old mentally retarded diabetic male patient with short stature, wide earlaps, old-looking face, straight nasal bone, atrophic mouth, drooping cheeks, full teeth loss, and soft, weak and sparse white hair was admitted to the outpatient endocrinology clinic. Chromosome analysis of the patient revealed 46,XY,del(18)(p11.2). He was also diagnosed with autoimmune thyroiditis, primary hypothyroidism and diabetes mellitus type 1. We concluded that monosomy 18p syndrome may be associated with autoimmune diseases and if this is suspected, patients should be examined for an endocrine deficiency.https://doi.org/10.2478/bjmg-2013-0023monosomy 18ptype 1 diabetes and hypothyroidismgrowth hormone deficiencyhypogo-nadotropic hypogonadism |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Dolek-Cetinkaya D Demirpence M.M. Gorgel A Salgur F Bahceci M |
| spellingShingle |
Dolek-Cetinkaya D Demirpence M.M. Gorgel A Salgur F Bahceci M A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA Balkan Journal of Medical Genetics monosomy 18p type 1 diabetes and hypothyroidism growth hormone deficiency hypogo-nadotropic hypogonadism |
| author_facet |
Dolek-Cetinkaya D Demirpence M.M. Gorgel A Salgur F Bahceci M |
| author_sort |
Dolek-Cetinkaya D |
| title |
A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA |
| title_short |
A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA |
| title_full |
A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA |
| title_fullStr |
A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA |
| title_full_unstemmed |
A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA |
| title_sort |
rare association of monosomy 18p syndrome and polyglandular autoimmune syndrome type iiia |
| publisher |
Sciendo |
| series |
Balkan Journal of Medical Genetics |
| issn |
1311-0160 |
| publishDate |
2013-06-01 |
| description |
We report a monosomy 18p syndrome in a male patient with polyglandular autoimmune syndrome (PAS) type IIIA. A 34-year-old mentally retarded diabetic male patient with short stature, wide earlaps, old-looking face, straight nasal bone, atrophic mouth, drooping cheeks, full teeth loss, and soft, weak and sparse white hair was admitted to the outpatient endocrinology clinic. Chromosome analysis of the patient revealed 46,XY,del(18)(p11.2). He was also diagnosed with autoimmune thyroiditis, primary hypothyroidism and diabetes mellitus type 1. We concluded that monosomy 18p syndrome may be associated with autoimmune diseases and if this is suspected, patients should be examined for an endocrine deficiency. |
| topic |
monosomy 18p type 1 diabetes and hypothyroidism growth hormone deficiency hypogo-nadotropic hypogonadism |
| url |
https://doi.org/10.2478/bjmg-2013-0023 |
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