Endocrine Abstracts

JOINT1193

A 14-year-and-8-month-old girl presented with a primary complaint of rapid weight gain. She had a history of progressive enlargement of her hands and feet since childhood. Excessive hair growth on her body was noted at the age of 10. Menarche occurred at 13 years, but no subsequent menstrual cycles were reported. One year prior, the patient had been diagnosed with obesity and insulin resistance, for which Metformin was prescribed; however, she did not adhere to the prescribed treatment regularly. The patient was born to consanguineous parents. Her family history revealed that two male siblings had died shortly after birth, while one female and one male sibling were healthy. On physical examination, her weight was 67.6 kg (+1.71 SDS), height 169.5 cm (+0.58 SDS), and BMI 23.5 kg/m² (+0.96 SDS). Distinct facial features were noted, including a large mandible, triangular facies, and an acromegaloid appearance. Additionally, she had large hands and feet, muscle hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly, and labial hypertrophy. Her physique was characterized by excessive fat accumulation in the upper back, reduced fat tissue in the pelvic region, and subcutaneous fat loss in the lower extremities, giving her a pronounced muscular appearance. Laboratory evaluations revealed the following abnormalities: Fasting glucose :86.2 mg/dL, insulin :132.4 µU/mL, HbA1c:7.6%, ALT:139 IU/l, AST :73 IU/l, FSH:3.76 µg/dL, LH:5.25 mIU/mL, total testosterone :1.43 ng/mL, IGF1:0,7 and leptin :3.9 ng/mL. The lipid panel and other tests were within normal limits (Table 1). Imaging studies demonstrated grade 3 hepatosteatosis on abdominal ultrasound, nephrolithiasis on renal ultrasound, and polycystic ovarian syndrome (PCOS) on pelvic ultrasound. Echocardiography findings were normal. Based on the clinical findings, generalized lipodystrophy type 2 was suspected, prompting genetic testing. Metformin therapy was reinitiated.