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