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MODY 1 (HNF4A Diabetes)

Maturity-Onset Diabetes of the Young Type 1

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is MODY 1 (HNF4A Diabetes)?

Autosomal dominant monogenic diabetes caused by mutations in the HNF4A (hepatocyte nuclear factor 4-alpha) gene on chromosome 20q.

Accounts for approximately 5-10% of all MODY cases (second most common after MODY 3/HNF1A).

HNF4A regulates expression of insulin and other beta-cell genes; mutations impair glucose-stimulated insulin secretion.

Often presents with progressive hyperglycemia in adolescence/young adulthood with normal beta-cell mass initially.

Distinct clinical phenotype includes neonatal macrosomia (50%) and transient neonatal hyperinsulinemic hypoglycemia.

Symptoms

Asymptomatic hyperglycemia detected on routine screening or family workup.
Polyuria, polydipsia, and weight loss when hyperglycemia is significant.
History of macrosomia at birth (over 4000g, 50% of HNF4A carriers).
Neonatal hypoglycemia (transient diazoxide-responsive hyperinsulinism).
Strong family history of diabetes spanning multiple generations (autosomal dominant).
Generally absent ketoacidosis and absent autoantibodies.
Normal or low BMI (in contrast to type 2 diabetes).

Risk Factors

Affected first-degree relative (50% transmission risk).
Multigenerational diabetes pattern (3 or more consecutive generations).
Diagnosis under age 25 with non-obese phenotype.
Negative pancreatic autoantibodies (GAD, IA-2, ZnT8, insulin).
Detectable C-peptide despite years of diabetes (preserved beta-cell function).
Birth weight over 4000g without maternal gestational diabetes.

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Diabetes diagnosis before age 25 with negative autoantibodies.
  • Non-obese individual with insulin-independent diabetes.
  • Strong autosomal dominant family history of diabetes.
  • Macrosomic birth (over 4000g) with later-onset diabetes.
  • Transient neonatal hyperinsulinemic hypoglycemia followed by adolescent hyperglycemia.
  • Genetic counseling referral for at-risk family members.

Treatment Methods

01
Genetic confirmation by HNF4A sequencing (definitive diagnosis).
02
Low-dose sulfonylureas (gliclazide, glibenclamide) are first-line therapy and highly effective due to KATP channel sensitivity.
03
Patients can often be transitioned from insulin to sulfonylureas after genetic diagnosis.
04
Diet, exercise, and lifestyle counseling alongside pharmacotherapy.
05
Insulin therapy reserved for advanced cases with declining beta-cell function or pregnancy.
06
Regular HbA1c monitoring (target under 7.0%) and screening for microvascular complications.
07
Genetic counseling for family members; cascade testing recommended.
08
Pregnancy management: glucose monitoring, fetal growth surveillance for macrosomia, and neonatal hypoglycemia screening if fetus carries mutation.

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.