Abstract                 Volume:5  Issue-7  Year-2018          Original Research Articles

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Online ISSN : 2349-8080
Issues : 12 per year
Publisher : Excellent Publishers
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Familial Glucocorticoid Deficiency Presenting as Progressive Hyperpigmentation
Ali Refaei1, Mohammed Soeid2, Nasir, Al Jurayyan3, BadiAlenazi4, Raed Abu Taleb5 and Amer AlAli2
1Paediatric Residence, KFCH, Jazan, Kingdom of Saudi Arabia 2Paediatric Endocrine Consultant, KFCH, Jazan, Kingdom of Saudi Arabia 3Professor Paediatric Endocrinologist, KSUH, Riadh, Kingdom of Saudi Arabia 4Paediatric endocrine consultant, Alyamamah Hospital, Riyadh, Kingdom of Saudi Arabia 5Consultant Family medicine, Jazan, Kingdom of Saudi Arabia
*Corresponding author
Abstract:

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease caused by resistant of ACTH receptor at adrenal cortex leading to (usually) isolated glucocorticoid deficiency with normal mineralocorticoid secretion. Patients with FGD usually presented in neonatal – childhood period with signs /symptoms of glucocorticoid deficiency such as hypoglycemia, hyperpigmentation, Failure to thrive, shock and death if treatment was delayed. Labs usually revealed high ACTH, low cortisol but normal 17 OHP, electrolyte, androgen. Here we describe a three years old, Saudi girl, with history of progressive hyperpigmentation since first year of life, but no history of hypoglycaemia or neonatal jaundice, no history of a lacrimation or dysphagia and positive similar family history. She had generalized Hyperpigmentation with normal female genitalia. Her cortisol was low with high ACTH level, but normal electrolyte, 17 Hydroxyprogesterone, aldosterone, renin, androgen. Familial Glucocorticoid Deficiency was diagnosed and maintenance dose of hydrocortisol was started and patient pigmentation was improved few weeks later.

Keywords: ACTH resistance syndrome, Familial glucocorticoid deficiency, MRAP mutations, MRC2 mutations
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How to cite this article:

Refaei, A., Soeid, M., Nasir, Al Jurayyan., Badi Alenazi, Abu Taleb, R., AlAli, A., 2018. Familial glucocorticoid deficiency presenting as progressive hyperpigmentation.Int.J.Curr.Res.Biosci.Plantbiol. 5(7): 49-52. doi: https://doi.org/10.20546/ijcrbp.2018.507.007