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


Tuhan H., Ceylaner S., Nalbantoglu O., Acar S., ABACI A., BÖBER E., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.9, no.4, pp.371-374, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.4274/jcrpe.4577
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.371-374
  • Keywords: Rabson-Mendenhall syndrome, insulin resistance, INSR, RABSON-MENDENHALL-SYNDROME, SEVERE INSULIN-RESISTANCE, PATIENT, THERAPY, GLUCOSE
  • Dokuz Eylül University Affiliated: Yes

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.