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Donohue syndrome
ICD-10 Codes
Related ICD-10:
Description
Donohue syndrome, also known as leprechaunism, is a rare genetic disorder characterized by severe insulin resistance [2]. This condition affects the body's ability to respond properly to insulin, leading to various symptoms.
Some of the key features of Donohue syndrome include:
- Severe insulin resistance: The body's tissues and organs do not respond properly to insulin, leading to high blood sugar levels [1][3].
- Growth failure: Affected individuals
Additional Characteristics
- Severe insulin resistance
- Growth failure
Signs and Symptoms
Donohue syndrome, also known as Leprechaunism, is a rare genetic disorder characterized by severe insulin resistance, growth failure, hypotonia, developmental delay, and distinctive facial features.
Distinctive Facial Features: The facial features of individuals with Donohue syndrome are distinct and include:
- Bulging eyes
- Thick lips
- Upturned nostrils
- Low-set ears
These facial features give the affected individual an elfin or gnome-like appearance. In addition to these physical characteristics, patients with Donohue syndrome may also experience:
Other Signs and Symptoms:
- Growth retardation
- Hypotonia (low muscle tone)
- Developmental delay
- Episodes of hypo- and hyperglycemia (low and high blood sugar levels)
- Marked hyperinsulinemia (high insulin levels)
In young girls, signs of virilization may also be observed.
Severe Form: Donohue syndrome represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy if left untreated.
References:
- [1] - Distinctive facial features in people with Donohue syndrome include bulging eyes, thick lips, upturned nostrils, and low-set ears. Affected individuals develop... (Search Result 1)
- [3] - Signs and symptoms Facial features indicative of Donohue syndrome include protuberant and low-set ears, flaring nostrils, unusually large mouth, thick lips,... (Search Result 3)
- [5] - The facial features of individuals with this disorder are distinct and include bulging eyes, thick lips, upturned nostrils, and low-set ears. ... (Search Result 5)
Additional Symptoms
- Hypotonia
- Low-set ears
- Developmental delay
- Bulging eyes
- Thick lips
- Upturned nostrils
- Growth retardation
- Episodes of hypo- and hyperglycemia
- Marked hyperinsulinemia
- Signs of virilization in young girls
Diagnostic Tests
Donohue syndrome, also known as Rabson-Mendenhall syndrome, is a rare genetic disorder characterized by severe insulin resistance. Diagnosing this condition involves a combination of clinical evaluation and genetic testing.
Clinical Evaluation
Early diagnosis of Donohue syndrome often relies on the recognition of its characteristic physical traits and growth patterns. Clinical evaluation typically includes:
- Physical examination to identify distinctive features such as short stature, facial abnormalities, and other physical characteristics.
- Growth monitoring to assess for intrauterine growth retardation or growth faltering in the newborn period.
Genetic Testing
Genetic testing is a crucial diagnostic tool for Donohue syndrome. It involves analyzing DNA samples from blood, saliva, or other tissues to identify mutations in the insulin receptor (INSR) gene. This test can be performed prenatally through amniocentesis or postnatally using various genetic testing methods.
- Deoxy ribonucleic acid analysis: PCR-based tests are commonly used to detect INSRR gene mutations.
- Whole genome sequencing: This advanced technique allows for the simultaneous analysis of all genes, including INSR, and can be particularly useful in cases where other diagnostic methods have been inconclusive.
Other Diagnostic Methods
In addition to clinical evaluation and genetic testing, other diagnostic approaches may be employed:
- Biochemical tests: Laboratory tests can help confirm insulin resistance by measuring fasting hypoglycemia, postprandial hyperglycemia, and extreme hyperinsulinemia.
- Imaging studies: Imaging techniques such as ultrasound or MRI may be used to assess for associated complications like nephrocalcinosis or hypertrophic cardiomyopathy.
References
- [3] Diagnosing Donohue Syndrome involves a combination of clinical evaluation and genetic testing, including deoxy ribonucleic acid analysis using period-time polymerase chain reaction (PCR) are frequently used for distinguishing this syndrome.
- [10] Because Donohue syndrome is a genetic disorder, genetic testing can be performed to diagnose the disease. These genetic tests include diagnostic testing, carrier testing, predictive and pre-symptomatic testing, as well as forensic testing.
- [14] To minimize turnaround time, we developed an ultra-rapid whole genome sequencing pipeline and tested it in clinical practice. Our pilot case, was a preterm infant presenting with several crises of dehydration, hypoglycaemia and hyponatremia together with nephrocalcinosis and hypertrophic cardiomyopathy.
- [13] Diagnosis is made on clinical (), biochemical (fasting hypoglycemia, postprandial hyperglycemia, and extreme hyperinsulinemia), and genetic findings.
Note: The references provided are based on the context information retrieved from a search engine and may not be an exhaustive list of all relevant studies or publications.
Additional Diagnostic Tests
- Clinical Evaluation
- Biochemical tests
- Imaging studies
- Genetic Testing (Deoxy ribonucleic acid analysis, Whole genome sequencing)
Treatment
Donohue syndrome, also known as leprechaunism, is a rare genetic disorder characterized by severe insulin resistance and other systemic complications.
Current treatment options for Donohue syndrome are limited and primarily focused on managing the symptoms.
- Insulin therapy: Continuous feeding with recombinant human insulin may be beneficial in optimizing glucose control [1].
- Oral agents: Metformin and thiazolidinediones have been used to increase insulin sensitivity, but their efficiency is limited [4][5].
Other treatment approaches:
- Liver transplant: In some cases, liver transplantation may be considered as a treatment option for Donohue syndrome [2].
- **NTBC (2-(2-Nitro-4
Recommended Medications
- Insulin therapy
- Oral agents (Metformin and thiazolidinediones)
- Liver transplant
- acid
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Donohue syndrome, also known as Rabson-Mendenhall syndrome, is a rare genetic disorder characterized by severe insulin resistance, growth failure, and other distinctive features. When considering the differential diagnosis for Donohue syndrome, several conditions should be taken into account.
- Type-A insulin resistance syndrome: This condition shares similar mutations in the INSR gene with Donohue syndrome, making it a crucial differential diagnosis [2][7].
- Rabson-Mendenhall syndrome: As mentioned earlier, this is another name for Donohue syndrome itself, but it's essential to consider it as part of the differential diagnosis due to its shared characteristics.
- Congenital total lipoatrophy: This condition presents with insulin resistance and absence of subcutaneous fat, similar to Donohue syndrome [6].
- Hutchinson–Gilford progeria syndrome: Although not directly related to insulin resistance, this rare genetic disorder can be considered in the differential diagnosis due to its overlapping features with Donohue syndrome.
- Atypical progeroid syndrome: This condition is characterized by heterozygous missense mutations and should be included in the differential diagnosis [5].
It's essential to note that a comprehensive diagnostic evaluation, including clinical examination, biochemical results, and genetic testing, is necessary to accurately diagnose Donohue syndrome. The disorder is transmitted as an autosomal recessive trait, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition [3].
References: [1] Not applicable [2] 2. by Y Nijim · 2016 · Cited by 20 — [3] 3. The differential diagnosis should include the other forms of extreme insulin resistance. [4] Not applicable [5] 5. Differential Diagnosis. Leprechaunism shares many features with congenital total lipoatrophy, including insulin resistance, absence of subcutaneous fat, ... [6] 6. by KA Metwalley · 2023 · Cited by 3 — [7] 7. by A Mesika · 2024 —
Additional Differential Diagnoses
- Type-A insulin resistance syndrome
- Congenital total lipoatrophy
- Atypical progeroid syndrome
- N syndrome
- progeria
Additional Information
- relatedICD
- http://example.org/icd10/E79.2
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
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- DOID:0050470
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- Donohue syndrome
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- oboInOwl#hasExactSynonym
- Leprechaunism
- IAO_0000115
- A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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