Early-onset severe obesity with ACTH deficiency and red hair in a boy: the POMC deficiency.

S Ozen, O Aldemir

Journal: Genetic counseling (Geneva, Switzerland) 2013;23(4):493-5

PMID: 23431750

Abstract

The patient is a 2.8 years old male who is extremely obese and severe hyperphagic from birth. He had seizures attacks and apnea from the second week of his life. He has red hair and serum cortisol and ACTH levels are very low. We examined our patient as a hypocortisolism due to ACTH deficiency and central hypothyrodism. After the corticosteroid replacement therapy hair color changed to brown. We performed molecular genetic analysis at the Institue for Experimental Pediatric Endocrinology laboratory in Berlin, Germany by Krude H. and found compound heterozygous mutations. As a result the case is diagnosed as POMC deficiency.

Address: Mersin Maternity and Children Hospital, Pediatric Endocrinology unit Mersin,Turkey.

Link outs

Free resources

Miscellaneous:

https://assays.cancer.gov/non-CPTAC-4026

Research Materials:

https://antibodies.cancer.gov/detail/CPTC-HLA-B-1

MeSH Terms: Adrenal Insufficiency, Adrenocorticotropic Hormone, Anti-Inflammatory Agents, Apnea, Caloric Restriction, Child, Preschool, Exercise Therapy, Follow-Up Studies, Genetic Predisposition to Disease, Hair Color, Humans, Hydrocortisone, Hyperphagia, Hypothyroidism, Male, Obesity, Morbid, Pro-Opiomelanocortin, Seizures, Thyroxine