Type A Insulin Resistance Syndrome- Novel insulin receptor gene mutation and familiar phenotypic variability

• Main Authors: Analía V Freire (Author), Paula Scaglia (Author), Mirta G Gryngarten (Author), Mariana Gutiérrez (Author), Andrea J Arcari (Author), Laura Suarez (Author), María Gabriela Ballerini (Author), Laura Valinotto (Author), Mónica I Natale (Author), Kenny Y Del Toro Camargo (Author), Ignacio Bergadá (Author), Rodolfo A Rey (Author), María Gabriela Ropelato (Author)
• Format: Book
• Published: International Journal of Clinical Endocrinology and Metabolism - Peertechz Publications, 2019-06-13.
• Subjects: Case Report
• Online Access: Connect to this object online.

<p>Type A Insulin Resistance Syndrome is due to heterozygous mutations in the insulin receptor (INSR) gene or its signaling pathway.</p><p>We present a premenarcheal 14 year-old girl with normal BMI, severe hirsutism, acanthosis nigricans, clitoral hypertrophy, deep voice, enlarged...