ESPE2021 ePoster Category 2 Adrenals and HPA Axis (57 abstracts)
First case in Lebanon of homozygous mutation in CYP 11B2 leading to isolated aldosterone deficiency.
Ahlam Azar 1 , Hiba El-Rahi 1 , Kevin Makhoul 2 , Peter Makhoul 2 & Andre Megarbane 1
1LAU Gilbert and Rose-Marie Chagoury School of Medicine and LAU Medical Center-Rizk Hospital, Beirut, Lebanon; 2University of Massachusetts Medical School, Worcester, MA, USA
Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a first degree consanguinity, with many patients who were treated with fludrocortisone during the first few years in their infancy. Hormonal assessment confirmed severe deficiency in Aldosterone with high level of Renine, normal Cortisol, ACTH and Androgens level. The patient was treated by fludrocortisone and sodium. The Genetic analysis of CYP 11B2 revealed homozygous mutation ((grch 37) g.143996461C>A or NM_000498.3: c.595+1 G>T intron 3) which confirm the diagnosis of isolated deficiency in Aldosterone. In conclusion, some cases of salt wasting in neonatal period can be due not to congenital adrenal hyperplasia but to isolated aldosterone synthase deficiency. The treatment has to be adjusted to limit the overprescription of hydrocortisone and the genetic testing can be very helpful. We report the first case of a Lebanese newborn with isolated aldosterone deficiency with a probable common founder mutation.
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