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Journals / Journal of Clinical Research in Pediatric Endocrinology / 2017 / Cilt: 9 - Sayı: 4

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans

HALE ÜNVER TUHAN
Serdar CEYLANER
Özlem NALBANTOĞLU
Sezer ACAR
Ayhan ABACI
Ece BÖBER
Korcan DEMİR
Pages
371–374
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

RMS should be suspected in a patient with characteristic physical features and insulin resistance.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2.
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Key Findings & Data:A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo.
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Conclusion & Impact:RMS should be suspected in a patient with characteristic physical features and insulin resistance.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo. On her physical examination, severe acanthosis nigricans of the neck, axillae, the external genitalia and antecubital regions, generalized lanugo, mildly decreased subcutaneous fat, dysmorphic facial features, and polydactyly on her left hand were noted. Insulin resistance and impaired glucose tolerance were found. Sequence analysis of the INSR in the patient revealed c.3529+5G>A mutation in homozygous state. RMS should be suspected in a patient with characteristic physical features and insulin resistance.

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Cite This Article

TUHAN, H. Ü., CEYLANER, S., NALBANTOĞLU, Ö., ACAR, S., ABACI, A., BÖBER, E., DEMİR, K. (2017). A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. Journal of Clinical Research in Pediatric Endocrinology, Cilt: 9 - Sayı: 4, 371–374. https://ajindex.com/articles/270483

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