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Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report.

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dc.contributor.author Uyangoda, K.
dc.contributor.author Kamalanathan, P.
dc.contributor.author Mettananda, S.
dc.date.accessioned 2019-11-29T04:06:43Z
dc.date.available 2019-11-29T04:06:43Z
dc.date.issued 2019
dc.identifier.citation Journal of medical case reports. 2019;13(1):280 en_US
dc.identifier.issn 1752-1947 (Electronic)
dc.identifier.issn 1752-1947 (Linking)
dc.identifier.uri http://repository.kln.ac.lk/handle/123456789/20503
dc.description Indexed in MEDLINE. en_US
dc.description.abstract BACKGROUND: Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Most patients are diagnosed following episodes of hypoglycemia or convulsion. We report the case of an infant with familial glucocorticoid deficiency who presented with hyperpigmentation, gigantism, and motor developmental delay without documented hypoglycemia, convulsion, or circulatory collapse. CASE PRESENTATION: A 10-month-old Sri Lankan Sinhalese baby boy born to consanguineous parents presented with generalized hyperpigmentation and overgrowth since birth. He had marginal gross motor developmental delay. His weight, length, and head circumference were above normal range for his age. Investigations revealed low serum cortisol and high adrenocorticotrophic hormone levels with no cortisol response following adrenocorticotropin stimulation. Serum electrolytes and aldosterone levels were normal. A diagnosis of familial glucocorticoid deficiency was made based on isolated glucocorticoid deficiency, hyperpigmentation, and tall stature. CONCLUSIONS: This case report highlights that glucocorticoid deficiency can present without documented hypoglycemia and circulatory collapse and a high degree of suspicion is needed in diagnosis. en_US
dc.language.iso en en_US
dc.publisher BioMed Central,London en_US
dc.subject Familial glucocorticoid deficiency en_US
dc.title Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report. en_US
dc.type Article en_US


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