ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2017; 9(4): 371-374 | DOI: 10.4274/jcrpe.4577

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

Hale Tuhan1, Serdar Ceylaner2, Özlem Nalbantoğlu3, Sezer Acar1, Ayhan Abacı1, Ece Böber1, Korcan Demir1
1Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey
2Intergen Genetics Centre, Ankara, Turkey
3University of Health Sciences, Dr. Behçet Uz Children Diseases and Surgery Training and Research Hospital, Department of Pediatric Endocrinology, İzmir, Turkey

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.

Keywords: Rabson-Mendenhall syndrome,insulin resistance,INSR

Hale Tuhan, Serdar Ceylaner, Özlem Nalbantoğlu, Sezer Acar, Ayhan Abacı, Ece Böber, Korcan Demir. A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans. J Clin Res Pediatr Endocrinol. 2017; 9(4): 371-374
Manuscript Language: English
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