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Ryoikibetsu Shokogun Shirizu 1995
Review
Topics: Abnormalities, Multiple; Diagnosis, Differential; Facies; Female; Growth Disorders; Humans; Hypertrichosis; Infant; Insulin Resistance
PubMed: 8581624
DOI: No ID Found -
Nihon Rinsho. Japanese Journal of... Sep 2002
Review
Topics: Abnormalities, Multiple; Acanthosis Nigricans; Carbohydrate Metabolism, Inborn Errors; Female; Growth Disorders; Hirsutism; Humans; Infant; Insulin Resistance; Insulin-Like Growth Factor I; Mutation; Protein-Tyrosine Kinases; Receptor, Insulin; Recombinant Proteins; Syndrome
PubMed: 12387087
DOI: No ID Found -
Clinical Laboratory 2014Donohue syndrome, a rare autosomal recessive disorder, is associated with the mutation of the insulin receptor gene in the short arm of the 19th chromosome. It is very...
Donohue syndrome, a rare autosomal recessive disorder, is associated with the mutation of the insulin receptor gene in the short arm of the 19th chromosome. It is very rare that a syndrome of insulin resistance resembles Donohue syndrome with patent ductus arteriosus. A 14-year-old girl, whose parents were consanguineous, was often admitted for abdominal pain over the past 8 years. She presented not only polydipsia, polyphagia, and weight loss but also small elfin face, distended abdomen, enlarged clitoris, hypertrichosis, acanthosis nigricans of the neck, decreased subcutaneous fat and 3/6 continuous murmur radiating to the right shoulder with thrill on 2nd to 3rd left sternal border. In addition, she had hyperglycemia, hyperinsulinism, and patent ductus arteriosus by laboratory examination and echocardiography, respectively. This child shows insulin resistance resembling Donohue syndrome with patent ductus arteriosus. Most of patients with Donohue syndrome die prematurely. The child surviving for a long time may have a milder form of Donohue syndrome and may be due to a less severe form of the defective gene. Chromosomal abnormalities may be also associated with this disease.
Topics: Adolescent; Child; Donohue Syndrome; Ductus Arteriosus, Patent; Female; Humans; Infant, Newborn; Insulin Resistance
PubMed: 24660547
DOI: 10.7754/clin.lab.2013.130326 -
The Journal of Pediatrics Apr 1969
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Brachiocephalic Veins; Dwarfism; Female; Hernia, Diaphragmatic; Humans; Infant, Newborn; Intellectual Disability; Progeria; Pyloric Stenosis; Spinal Cord Diseases; Urogenital Abnormalities; Vena Cava, Superior
PubMed: 4886189
DOI: 10.1016/s0022-3476(69)80044-2 -
BMJ Case Reports Oct 2015Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene. The diagnosis is made on...
Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene. The diagnosis is made on clinical, biochemical and genetic grounds. Mutations are found on chromosome 19p13.2, and code for mutations in the INSR gene. Treatment is challenging and often unsuccessful, and relies on maintaining normoglycaemia and avoiding fasting; in some patients, recombinant human insulin-like growth factor (rhIGF-1) has been trialled. The prognosis is poor, with most babies dying in infancy. Ethically, it is important to consider the benefit versus burden of treatment, the quality of life of the surviving patient and the parents' wishes, when making decisions regarding withholding or withdrawing care.
Topics: Clinical Decision-Making; Donohue Syndrome; Humans; Hyperglycemia; Infant, Newborn; Insulin Infusion Systems; Male; Mutation; Palliative Care; Prognosis; Quality of Life; Receptor, Insulin
PubMed: 26508115
DOI: 10.1136/bcr-2015-210019 -
Journal of the Medical Association of... Aug 1975
Topics: Abnormalities, Multiple; Dwarfism; Female; Humans; Infant; Syndrome
PubMed: 1159345
DOI: No ID Found -
Anales de Pediatria (Barcelona, Spain :... May 2011
Topics: Child; Donohue Syndrome; Humans; Male
PubMed: 21376683
DOI: 10.1016/j.anpedi.2010.12.013 -
Pediatric Diabetes Mar 2021
Topics: Donohue Syndrome; Humans; Legendary Creatures; Terminology as Topic
PubMed: 32981189
DOI: 10.1111/pedi.13127 -
Journal of Pediatric Endocrinology &... Mar 2014
Topics: Donohue Syndrome; Humans; Infant, Newborn; Male
PubMed: 24127532
DOI: 10.1515/jpem-2013-0341 -
Journal of Pediatric Endocrinology &... Jul 2015Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin...
Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features. Glucose homeostasis is affected with hyperinsulinemia, fasting hypoglycemia, and postprandial hyperglycemia. We report a Jordanian patient with genetically proven DS who had the classical physical features, progressive hypertrophic cardiomyopathy, cholestasis, and hyperglycemia, followed by hypoglycemia. In addition, the patient developed polyuria and uremia despite normal creatinine levels, hypernatremia, and hypertension. To our knowledge, these metabolic derangements were not previously reported in patients with DS.
Topics: Cardiomyopathy, Hypertrophic; Donohue Syndrome; Female; Humans; Hyperglycemia; Hyperinsulinism; Hypoglycemia; Infant, Newborn; Insulin Resistance; Polyuria; Prognosis; Uremia
PubMed: 25741786
DOI: 10.1515/jpem-2014-0405