Clinical Follow-Up of a Case Diagnosed with POMC Deficiency Presenting with Hypoglycemia and Cholestasis

Özdemir Behiye Sarıkaya; Eren Sümeyye Emel; Oğuz Melahat Melek; Gizem Bakır; Karadeniz Cansu Sadiye; Eken Emine Şeyma; Erdal Kurnaz; Melikşah Keskin; Bala Keziban Aslı; Ayşegül Tok; Kulalı Melike Ataseven; Erdeve Şenay Savaş

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ESPE Abstracts (2024) 98 P2-239

ESPE2024 Poster Category 2 Pituitary, Neuroendocrinology and Puberty (36 abstracts)

Clinical Follow-Up of a Case Diagnosed with POMC Deficiency Presenting with Hypoglycemia and Cholestasis

Behiye Sarıkaya Özdemir ¹ , Sümeyye Emel Eren ¹ , Melahat Melek Oğuz ^2,3 , Gizem Bakır ¹ , Cansu Sadiye Karadeniz ¹ , Emine Şeyma Eken ¹ , Erdal Kurnaz ^1,3 , Melikşah Keskin ^1,3 , Keziban Aslı Bala ^1,3 , Ayşegül Tok ⁴ , Melike Ataseven Kulalı ⁵ & Şenay Savaş Erdeve ^1,3

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¹Ankara Etlik City Hospital Pediatric Endocrinology Clinic, Ankara, Turkey. ²Ankara Etlik City Hopital Pediatrics Clinic, Ankara, Turkey. ³University of Health Sciences, Ankara, Turkey. ⁴Ankara Etlik City Hospital Pediatric Gastroenterology Clinic, Ankara, Turkey. ⁵Ankara Etlik City Hospital Pediatric Genetics Clinic, Ankara, Turkey

Introduction: Central adrenal insufficiency due to isolated adrenocorticotropic hormone (ACTH) deficiency is rare. The etiology often involves homozygous or compound heterozygous mutations in genes related to the production and terminal differentiation of proopiomelanocortin (POMC). POMC deficiency is characterized by central adrenal insufficiency, early-onset obesity, red hair, and reduced skin pigmentation. Here, we present a case diagnosed with POMC deficiency presenting with hypoglycemia and cholestasis.

Case: The history of a 40-day-old male infant indicates that he was born full-term via cesarean section to second-degree consanguineous parents with a birth weight of 3200 grams, and was admitted to intensive care after experiencing seizures and hypoglycemia detected within the second postnatal hour. After discharge, he exhibited feeding difficulties, persistent vomiting, weight loss, and prolonged jaundice. Physical examination revealed a length of 51 cm (-1.71 SDS), body weight of 3980 grams (-1.22 SDS), and head circumference of 36 cm (-1.91 SDS). The infant had red hair, a jaundiced appearance, each testicle measuring 1 mL, a penile length of 3 cm, and no hyperpigmentation. Laboratory tests revealed glucose at 54 mg/dL, sodium at 140 mmol/L, potassium at 5.96 mmol/L, AST at 56 U/L, ALT at 52 U/L, total bilirubin at 5.94 mg/dL, direct bilirubin at 3.51 mg/dL, GGT at 28 U/L, cortisol at 0.054 µg/dL, and ACTH at <1.5 ng/L. Other anterior pituitary hormones were normal. A low-dose ACTH stimulation test indicated a peak cortisol response of 0.295 µg/dL, and hydrocortisone treatment was initiated at a dose of 13 mg/m²/day. By the third month of follow-up, although transaminase levels remained high, symptoms of cholestasis had improved (AST 101 U/L, ALT 127 U/L, GGT 44 U/L, total bilirubin 0.16 mg/dL, direct bilirubin 0.1 mg/dL). Genetic analysis identified a pathogenic homozygous c.206del p.(Pro69LeufsTer2) frameshift variant in the POMC gene. During the follow-up, he required hospitalization three times for urinary tract infections, once for pneumonia, and once for acute gastroenteritis.

Conclusion: POMC deficiency should be considered in patients with central adrenal insufficiency and red hair. Early-onset obesity is expected, necessitating careful monitoring. Despite treatment and regular medication, the persistence of elevated liver function tests and bilirubin levels for three months is a rare and notable finding. Genetic testing played a crucial role in confirming this diagnosis.

Key words: Central adrenal insufficiency, hypoglycemia, cholestasis, proopiomelanocortin.