SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.

Background: Type A Insulin Resistance Syndrome is a rare disorder characterized by severe insulin resistance. Affected females may present with primary amenorrhea, oligomenorrhea, cystic ovaries, hirsutism, and acanthosis nigricans in the absence of obesity. Case: &nbsp;A 14y0m female was seen in endocrinology clinic for the possibility of PCOS due to primary amenorrhea and hirsutism. Mom with history of PCOS. Patient had onset of breast development at age 11, body odor age 12, pubic hair age 12, axillary hair age 12, without menarche or menstrual cramping. She had mild facial acne treated with over the counter facial washes. She noticed hair growth on her face, arms, and stomach since turning 13yo which was gradually getting worse. On physical exam, she was an average sized female with BMI at the 75%. She had a Ferriman Gallwey score of 31, moderate facial acne, acanthosis nigricans, and a deep voice. She had a testosterone of 301ng/dL, free testosterone 39pg/mL, DHEAS 137mcg/dL, androstenedione 475ng/dL, 17-OH-progesterone 127ng/dL, HgA1C 4.8%, and glucose 77mg/dL. Due to the degree of hyperandrogenemia, additional studies were performed to include 12am salivary cortisol <50ng/dL, ACTH stimulation test (not diagnostic for congenital adrenal hyperplasia), OGTT with fasting insulin 131 uIU/mL and 2hour insulin >300uIU/mL, and adiponectin 17mcg/mL. She had normal adrenal ultrasound and MRI. She had pelvic ultrasound with prominent ovarian sizes with numerous follicles. She had genetic testing for an insulin receptor mutation which confirmed suspicions for&nbsp;type A&nbsp;insulin resistance syndrome.&nbsp;INSR&nbsp;molecular analysis revealed heterozygous pathogenic mutation (c.3602G>A; p.Arg1201Gln).&nbsp;She was treated with metformin, drospirenone-ethinyl estradiol, and laser hair removal with improvement in clinical and biochemical features. Conclusion: This case highlights that significantly elevated androgen levels, specifically testosterone, can exceed values much higher than those currently reported or known to be associated with the various INSR mutations causing Type A Insulin Resistance Syndrome. We hope this case will serve to add knowledge and diversity to the variable clinical findings and outcomes, related to Type A Insulin Resistance, especially in the pediatric population. &nbsp;