ESPE Abstracts

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) due to mutation in StAR gene, is the most severe form of congenital adrenal hyperplasia (CAH). Affected patient had intracellular cholesterol accumulation in the adrenal glands and tests that manifest clinically in adrenal insufficiency and sex reversal in XY male. Hormonal replacement therapy with physiological doses of glucocorticoids and mineralocorticoids, is the treatment option.

Case Presentation: A 4 year old XX female diagnosed in the neonatal periods with CLAH, based on clinical manifestation of hyperpigmentation and laboratory findings of hyperkalemia, hyponatremia, low cortisol and low 17-hydroxyprogesteron. Genetic testing confirmed the diagnosis of homozygous mutation in exon 3 of StAR gene, c.201_202delCT (p.leu67fsX3). She was maintained on hydrocortison (15mg/m2/day) and fludrocortisone 0.1 mg twice daily. The family lost follow up and kept on the same doses till age of 4 years. Later, she was admitted with respiratory distress. During hospitalization found to have hypokalemia, normal sodium, and BP 150/100 (severe hypertension >>95th percentile for systolic and diastolic). Fludrocortisone was stopped, potasuim supplement and anti hypertensive medication (spironolactone & hydralazine) was added. As no respond, she was shifted to metalazone 5mg with improvement in BP. Renal causes was ruled out, and cardiac echo showed mild LV hypertrophy. She was initially discharge on hydrocortison 15 mg/m2/day, K supplement & metalazone for 3 months, then kept only on hydrocortison. Six months later, fludrocortisone 0.05mg was resumed due to electrolytes disturbances, without hypertension (HTN).

Discussion: Fludrocortisone is a synthetic adrenal steroid with high mineralocorticoid activity. It acts on mineralocorticoid receptor, increase transcription of ENac and up-regulate positive regulator of channel that result in Na retention and HTN.

Conclusion: Hormonal replacement therapy with physiological dose of glucocorticoids and fludrocortisone is the option of treatment in CLAH. BP monitoring with Regular follow up and age based dose adjustment is recommended to avoid complications.

References: 1. Hashemipour M, Ghasemi M, Hovsepian S. A case of congenital lipoid adrenal hyperplasia. Int J Prev Med. 2012;3(7):510-514. 2. Sun Y, Zhang JN, Zhao D, et al. Role of the epithelial sodium channel in salt-sensitive hypertension. Acta Pharmacol Sin. 2011;32(6):789-797. doi:10.1038/aps.2011.72