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Rabson-Mendenhall sendromu (Mendenhall sendromu)

Kalıtsal - AR

Gelişme geriliği

Kaba yüz yapısı

Prognatizm

Çukur damak

Gingival hipoplazi

Dişlerde displaziler

Dişlerin erken sürmesi

Makroglossi

Dilde derin fissürler

Penis iri

Klitoromegali

Acanthosis nigricans

Deri kuru-likenli

Ayak tırnakları kalın

Hipertrikoz

Pineal hipertrofi

Diabetes mellitus

Diabetik ketoasidoz

Hiperinsülinemi

Erken puberte

  • West RJ, Leonard JV. Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy. Archives of Disease in Childhood,  55: 619-621, 1980

  • Accili D, Frapier C, Mosthaf L, et al. A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO Journal, 8: 2509-2517, 1989

  • Puig-Domingo M, Webb SM, Serrano J, et al. Melatonin-related hypogonadotropic hypogonadism. New England Journal of Medicine, 327: 1356-1359, 1992

  • Cochran E, Young JR, Sebring N, et al. Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome. Journal of Clinical Endocrinology & Metabolism, 89: 1548-1554, 2004