Type A insulin resistance syndrome

Classification according to ICD-10
E13.-	Other specified diabetes mellitus
ICD-10 online (WHO version 2019)

The insulin resistance syndrome type A is a very rare congenital disease with the main features of hyperinsulinemia , acanthosis nigricans and signs of hyperandrogenism .

Synonyms are: Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Insulin Receptor, Defect in, with Insulin-Resistant Diabetes mellitus and Acanthosis nigricans; Diabetes mellitus, insulin-resistant, with acanthosis nigricans type A

The name was suggested by the American doctor C. Ronald Kahn and colleagues in 1976.

distribution

The incidence is estimated at 1 in 100,000, the inheritance is done in an autosomal dominant , possibly autosomal - recessive .

root cause

Of the disease are in some of the cases mutations in INSR - gene in chromosome 19 , locus P13.2 based encoding the tyrosine kinase.

Clinical manifestations

Clinical criteria are:

• Manifestation in childhood or adolescence
• Diabetes mellitus with insulin resistance
• Acanthosis nigricans
• Hyperandrogenemia in young women without lipodystrophy and without obesity

There is an association with polycystic ovary syndrome or hyperthecosis ovarii .

Sometimes there are also facial changes such as acromegaly and muscle cramps .

diagnosis

The clinical diagnosis focuses on the effects of hyperandrogenemia in young women and insulin resistance and acanthosis nigricans in young men.

Differential diagnosis

Other diseases from the group of extremely insulin-resistant syndromes must be distinguished:

• Leprechaunism
• Lipodystrophies
• Rabson-Mendenhall Syndrome
• Insulin resistance syndrome type B (in older women with detectable antibodies against insulin receptors )
• HAIR-AN syndrome

therapy

The treatment relates to diabetes, see p. there.

literature

• P. Ros, E. Colino-Alcol, V. Grasso, F. Barbetti, J. Argente: Síndrome de insulinorresistencia severa tipo A debido a mutación del gen del receptor de insulina. In: Anales de pediatria. Vol. 82, No. 1, January 2015, pp. E30 – e34, doi: 10.1016 / j.anpedi.2014.03.008 , PMID 25027621 .
• A. Zaridoust, A. Rabbani, F. Sayarifard, CT Thiel, N. Rezaei: Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome. In: Iranian journal of pediatrics. Vol. 23, No. 3, June 2013, pp. 363-365, PMID 23795265 , PMC 3684487 (free full text).

Individual evidence

1. ↑ ^{a b c d e} Insulin resistance syndrome type A. In: Orphanet (database for rare diseases).
2. ↑ CR Kahn, JS Flier, RS Bar, JA Archer, P. Gorden, MM Martin, J. Roth: The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. In: The New England Journal of Medicine . Vol. 294, No. 14, April 1976, pp. 739-745, doi: 10.1056 / NEJM197604012941401 , PMID 176581 .
3. ^ Genetics Home Reference
4. ↑ Diabetes mellitus, insulin-resistant, with acanthosis nigricans.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !