KaydedilenlerDerginizi ekleyin

Dergiler / 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
Sayfa
371–374
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2.
📊
Temel Bulgular & Veri:A 5-year-old female patient was referred due to acanthosis nigricans and generalized lanugo.
💡
Sonuç & Katkı:RMS should be suspected in a patient with characteristic physical features and insulin resistance.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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.

🔖

Bu Makaleye Atıf Yap

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

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (8)

  1. Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella- Neto D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet 2002;11:1465-1475. Thakker RV. 2010 Multiple Endocrine Neoplasia type 1. In: De Groot LJ, Jameson JL, eds. Endocrinology, 2- Volume Set, 6th ed. Saunders, Elsevier; 2719-2741.
  2. Semple RK, Savage DB, Cochran EK, Gorden P, O’Rahilly S. Genetic syndromes of severe insulin resistance. Endocr Rev 2011;32:498-514. Epub 2011 May 2 Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK. Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence. J Korean Med Sci 2012;27:565- 568. Epub 2012 Apr 25 Martínez R, Ortiz-Espejo M, Aguayo A, Velayos T, Urrutia I, Martínez de LaPiscina I, Barreiro J, Barrio R, Cardona-Hernández R, García-Puente I, Vela A, Rica I, Castaño L. Genotype-Phenotype Correlation in Severe Insulin Resistance Syndromes: 5 Cases with Recessive Mutations in INSR [abstract]. In: Proceedings of XXVI. Congreso de la Sociedad Latinoamericana de Endocrinologia Pediatrica; Buenos Aires, Oral Presentation Number 25, 2016.
  3. Hardaway CA, Gibbs NF. What syndrome is this? Rabson-Mendenhall syndrome. Pediatr Dermatol 2002;19:267-270.
  4. Rabson SM, Mendenhall EN. Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. Am J Clin Pathol 1956;26:283-290.
  5. Desbois-Mouthon C, Magre J, Duprey J, Caron M, Blivet-Van Eggelpoel MJ, Daubas C, Gourmelen M, Chevallier B, Rizkalla S, Robert JJ, Capeau J. Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit. Pediatr Res 1997;42:72-77.
  6. McDonald A, Williams RM, Regan FM, Semple RK, Dunger DB. IGF-I treatment of insulin resistance. Eur J Endocrinol 2007;157(Suppl 1):51-56.
  7. Cochran E, Young JR, Sebring N, DePaoli A, Oral EA, Gorden P. Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. J Clin Endocrinol Metab 2004;89:1548-1554.
  8. Brown RJ, Cochran E, Gorden P. Metreleptin improves blood glucose in patients with insulin receptor mutations. J Clin Endocrinol Metab 2013;98:1749-1756. Epub 2013 Aug 22 Moreira RO, Zagury RL, Nascimento TS, Zagury L. Multidrug therapy in a patient with Rabson-Mendenhall syndrome