Endocrine Abstracts

JOINT1498

Introduction: Progeria or Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare autosomal dominant syndrome that accelerates ageing and affects internal systems, affecting 1 in 18 million people. It is linked to lamin mutations and high hyaluronic acid levels, leading to cardiovascular and sclerodermatous changes. Bioinactive growth hormone and excess hyaluronic acid may stunt growth. While some endocrine aspects are studied, metabolism remains unclear. We report a case highlighting its complications.

Case report: A 12-year-old girl presented with progressively coarse skin, growth failure, and global alopecia. She appeared normal until age 2, when her parents first noticed these changes. Her prenatal history was unremarkable, intelligence average (IQ=82), and no family history of similar conditions. She exhibited a senile appearance with prominent eyes, visible scalp veins, alopecia, peaked nose, and a small chin. Her hands were short and clawed, with thickened knuckle skin and racquet nails. The trunk and lower limbs showed mottled pigmentation and sclerodermatous changes. Ophthalmologic findings included bilateral lagophthalmos and left eye pterygium. ENT examination was normal. Chest auscultation revealed murmurs. Medical records show the patient weighs 11.5 kg (<5^th percentile) and is 105,5 cm tall (<5^th percentile), with BMI of 10.3 (Z score <-3). Progeria was diagnosed based on history and clinical findings. She has impaired glucose tolerance (fasting glucose 73 mg/dl, random glucose 136 mg/dl, HbA1c 5.7%), normal renal function, elevated liver enzymes (AST 183 U/l, ALT 187 U/L), and dyslipidemia (TC 207 mg/dl, TG 348 mg/dl, HDL 23 mg/dl, LDL 143 mg/dl). Electrolytes are normal, but blood gas analysis shows a mildly increased pH (7.46). Echocardiogram reveals severe mitral regurgitation, mild atrial regurgitation, severe mitral and atrial stenosis. Nutritional therapy includes 1500 kcal/day, primarily from carbohydrates 1356 kcal/day (90%), with protein 21.2 g/day (1.2 g/kg/day) and fat 900–1210 kcal/day (90–110 kcal/kg/day). Formula milk is administered in 5 servings/220 ml (6 scoops + 180 ml water), alongside three meals containing one egg per meal. Feeding occurs at scheduled intervals. She is prescribed lisinopril (1 mg/day) with echocardiograms every three months. For lagophthalmos, she receives Hyalub (3×1 ODS) and Cenfresh (6×1 ODS), with a two-week follow-up. scheduled. She continues outpatient follow-up in pediatric endocrinology, nutrition, cardiology, and ophthalmology.

Conclusion: Analysing indicators and identifying targetable deficits may offer potential for addressing cardiovascular disease and other significant phenotypes in HGPS, which have thus far been inadequately associated with these recognised endocrine changes.