ESPE Abstracts

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.

Case: A 16-day-old girl was brought to our hospital due to poor feeding and jaundice. Her past medical history revealed that she was born after the first and uneventful pregnancy of a mother with a birth weight of 3270 grams at 41 gestation weeks. Family history was unremarkable and the parents were no relatives. On physical examination, weight was 3030 g (-1.29 SDS), height was 50.6 cm (-0.17 SDS), head circumference was 35.8 cm (0.14 SDS), and also icteric appearance and red hair were observed. Genital examination revealed normal female external genitalia. On the laboratory, hypoglycemia (30 mg / dL), mild hyponatremia, negative urine ketones; high serum levels of total bilirubin, ALT / AST, and elevated ammonia-lactate were found. Serum acyl/carnitine profile was in the normal range. Hormonal profile revealed free T4 1.14 ng / dL, TSH 9,01 U / L, FSH 0,57 U / L (0,1-3,3), LH 0,24 U / L (0-1,9 ), DHEA-S 4.7 µg/dL, prolactin 18.5 mIU / L (3-24), serum insulin 0.32 U / L, cortisol 0.08 µg/dL, ACTH <5 pg / mL. The peak cortisol response was inadequate in the low-dose ACTH test (11.2 µg/dL). Pituitary MRI was normal. Central (secondary) adrenal insufficiency was established and 10 mg / m2 hydrocortisone treatment was started. Red hair and central adrenal insufficiency were suggestive for the diagnosis of POMC deficiency and following genetic analysis, a homozygous mutation in the POMC [c.206delC (p.P69Lfs*2)] was detected. Hypoglycemia was not recorded after hydrocortisone treatment, and progressive weight gain was observed during the follow-up. At the most recent follow-up when she was at the age of three years and 10 months, weight was 23.2 kg (3.07 SDS), height was 101.2 cm (0.31 SDS) and body mass index was 22.7 kg / m2 (3.58 SDS). She was on treatment with hydrocortisone (6.8 mg / m 2 / day).

In conclusion: In cases with central adrenal insufficiency, red-hair, and early-onset obesity, POMC deficiency should be suspected and molecular genetic confirmation by analyzing of POMC should be performed.