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Genet Couns. 2012;23(4):493-5.

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

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


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.

[Indexed for MEDLINE]

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