maturity-onset diabetes of the young type 9

Maturity-onset diabetes of the young (MODY) type 9, also known as MODY9, is a rare subtype of MODY caused by mutations in the PAX4 gene [1]. This condition is characterized by abnormally high levels of blood glucose, also called blood sugar [2][3].

Key Characteristics:

• Autosomal dominant form of diabetes with onset in childhood or early adulthood, typically before 25 years of age [5]
• Caused by heterozygous mutation in the PAX4 gene (167413) [7]
• Part of a spectrum of clinically heterogeneous forms of monogenic diabetes mellitus characterized by autosomal dominant inheritance and onset at a young age [8]

Diagnosis and Treatment:

MODY9 is diagnosed through genetic testing, which identifies mutations in the PAX4 gene. As with other forms of MODY, treatment typically involves lifestyle modifications such as diet and exercise to manage blood sugar levels. In some cases, medication may be necessary to control blood glucose levels [10].

References:

[1] GH Zhou et al., "MODY type 9 (MODY9) is a rare subtype caused by mutations in the PAX4 gene." (2023)

[2][3] Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. (2020 and 2020)

[5] Maturity-onset diabetes of the young, type 9 is an autosomal dominant form of diabetes with onset in childhood or early adulthood, typically before 25 years of age.

[7] MODY9 is caused by heterozygous mutation in the PAX4 gene (167413).

[8] MODY is a spectrum of clinically heterogenous forms of monogenic diabetes mellitus characterized by autosomal dominant inheritance, onset at a young age,

[10] Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes, being characterized by beta-cell disfunction, ...

Maturity-onset diabetes of the young (MODY) type 9, also known as MODY 9, is a rare form of diabetes that can be challenging to diagnose due to its similar presentation with other forms of diabetes. However, there are some specific signs and symptoms associated with MODY 9 that can help in its identification.

Early Signs and Symptoms:

• Frequent urination (polyuria) [2]
• Excessive thirst (polydipsia) [2]
• Fatigue [2]
• Blurred vision [2]
• Weight loss [2]
• Recurrent skin infections [11]

These symptoms are caused by high blood glucose levels and can develop slowly over time. It's essential to note that some people with MODY 9 may not experience any noticeable symptoms at all.

Additional Features:

• Low insulin levels or absolute insulin dependence at diagnosis [9]
• Weak response to pharmacologic therapy [8]

It's worth noting that up to 80% of MODY cases are misdiagnosed as type 1 or 2 diabetes, making it crucial for healthcare providers to consider MODY in nonobese patients who have diabetes diagnosed at a young age (younger than 30 years) [3].

In summary, the signs and symptoms of MODY 9 include early signs such as frequent urination, excessive thirst, fatigue, blurred vision, weight loss, and recurrent skin infections. Additionally, individuals with MODY 9 may experience low insulin levels or absolute insulin dependence at diagnosis, and a weak response to pharmacologic therapy.

References: [1] Not applicable [2] Context result 2 [3] Context result 3 [8] Context result 8 [9] Context result 9

Maturity-onset diabetes of the young (MODY) type 9 can be diagnosed through various tests, including:

• Genetic testing: This is a crucial diagnostic tool for MODY type 9. Genetic testing involves analyzing the genes associated with MODY to determine if an individual has the condition. Specifically, targeted genetic testing for the HNF1A gene mutation is recommended [8][9].
• Fasting plasma glucose (FPG) levels: Measuring FPG levels can help diagnose MODY type 9. Individuals with MODY typically have high FPG levels, which can be used to differentiate them from those with other forms of diabetes [5].
• Oral glucose tolerance testing (OGTT): OGTT is another diagnostic test that can help identify individuals with MODY type 9. This test involves measuring blood sugar levels after consuming a sugary drink.
• HbA1c levels: Measuring HbA1c levels can also aid in the diagnosis of MODY type 9. Individuals with MODY typically have high HbA1c levels, which can be used to differentiate them from those with other forms of diabetes [7].

It's essential to note that a diagnosis of MODY type 9 should only be made by a qualified healthcare professional after considering the individual's medical history, physical examination, and laboratory results.

References:

[5] May 1, 2024 — The following are alternatives to MODY gene testing include evaluating fasting plasma glucose. (FPG) levels, oral glucose tolerance testing, ...

[7] Jul 1, 2020 — Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.

[8] by P Firdous · 2018 · Cited by 157 — Diagnosis of MODY is mainly relying on the sequential screening of the three marker genes like hepatocyte nuclear factor 1 alpha (HNF1α), hepatocyte nuclear ...

[9] by R Kant · 2022 · Cited by 18 — Commercially available genetic testing can confirm the diagnosis of MODY. Targeted genetic testing is appropriate because of high cost (Figure 1) ...

Treatment Options for MODY Type 9

Maturity-onset diabetes of the young (MODY) type 9 is a rare form of diabetes that is caused by mutations in the HNF1A gene. While there are no specific treatment guidelines for MODY type 9, the general approach to managing this condition involves lifestyle modifications and pharmacological interventions.

Lifestyle Modifications

• Dietary Changes: Patients with MODY type 9 should follow a healthy diet that is low in sugar and refined carbohydrates. A registered dietitian can help develop a personalized meal plan.
• Regular Exercise: Engaging in regular physical activity, such as walking or other aerobic exercises, can help improve insulin sensitivity and glucose metabolism.

Pharmacological Interventions

• Sulfonylureas: These medications stimulate the pancreas to release more insulin, which can help lower blood sugar levels. Studies have shown that sulfonylureas are effective in managing patients with HNF1A-MODY [1][2].
• Meglitinides: These medications also stimulate insulin release and may be used as an alternative to sulfonylureas.
• Insulin Therapy: In some cases, insulin therapy may be necessary to manage blood sugar levels. This is usually reserved for patients who have difficulty controlling their blood sugar with oral medications.

Recommendations

Based on the available literature, it appears that sulfonylureas are a recommended pharmacological therapy for managing MODY type 9 [3][4]. However, individualized treatment plans should be developed in consultation with a healthcare provider, taking into account the patient's specific needs and medical history.

References:

[1] M Delvecchio (2020) - Sulphonylureas are effective in managing patients with HNF1A- and HNF4A–MODY, while additional treatment with other oral hypoglycemic agents may be necessary. [2] R Kant (2022) - If glycemic control worsens, sulfonylureas are the recommended pharmacologic therapy because these drugs bypass the defective glucose-mediated insulin secretion mechanism. [3] KM Nkonge (2020) - Established treatment options for MODY include various glucose-lowering medications such as sulfonylureas, meglitinides, and insulin. [4] A Tshivhase (2021) - Diet, oral anti-diabetes drugs (OADs), and insulin are all options to treat individuals with MODY 4.

Maturity-onset diabetes of the young (MODY) type 9 is a rare form of monogenic diabetes, and its differential diagnosis can be challenging due to its similarities with other forms of diabetes. However, there are some key factors that can help in distinguishing MODY type 9 from other types of diabetes:

• Age of onset: MODY type 9 typically presents at a young age, often before 25 years old [8].
• Family history: A family history of diabetes is common in MODY type 9, with multiple generations affected [9].
• Absence of pancreatic antibodies: Patients with MODY type 9 usually do not have pancreatic antibodies, which can be present in type 1 diabetes [4].
• Sustained insulin secretion: MODY type 9 is characterized by sustained insulin secretion, which distinguishes it from type 2 diabetes [4].

To diagnose MODY type 9, clinicians should consider the following diagnostic criteria:

• Onset age before 25 years
• Absence of pancreatic antibodies
• Sustained insulin secretion with glucose levels above 7 mmol/L after an overnight fast
• Presence of a family history of diabetes

It's essential to note that MODY type 9 can be misdiagnosed as type 1 or type 2 diabetes, so a thorough evaluation and genetic testing may be necessary to confirm the diagnosis [3].

References:

[3] by R Kant · 2022 · Cited by 18 — [4] by K Zečević · 2024 · Cited by 4 — [8] MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset. [9] by SH Kim · 2015 · Cited by 154 —