• Adrenal insufficiency is a rare, but potentially fatal medical condition 1.
• In children, the cause is most commonly congenital adrenal hyperplasia (CAH) but in recent years a growing number of causative gene mutations have been identified resulting in syndromes that share primary adrenal insufficiency (PAI) characteristics.
• PAI Incidence in Europe reported PAI 82144/million 2.
• Higher CAH incidence has been reported in Saudi Arabia (1/7908) and 44 cases have reported for other causes 3.
• Underline causes for a lot of cases have not been identified till Whole exome sequencing have been applied.
• Primary: To Identify Causes for primary adrenal insufficiency at KFSHRC.
• Secondary: to Identify causative genes and common features of PAI.
• Study Design is retrospective cross-sectional study by reviewing Medical records.
• Inclusion criteria: All patients following with Pediatric Endocrinology clinics at KFSHRC during 2018 with PAI.
• Exclusion criteria: All cases of Congenital adrenal hyperplasia and Autoimmune Polyglandular disease were excluded.
• IRB approved the research with RAC Number: (2181 257).
• Data were collected and entered by using Excel Sheet then analyzed by SPSS.
Result and Discussion:
• The most common causes of PAI are Adrenoleukodystrophy then Familial Glucocorticoid Deficiency and Adrenal Hypoplasia which is different from Hsieh and White study 4.
• X-lined diseases account for 56% of them which explains predominance of male on the study.
• Adrenoleukodystrophy is common on our hospital due to availability of transplant and screening of other family members which is recommended 5.
• ACTH resistance and adrenal hypoplasia present early on life but Majority present late.
• Different gene mutation have been identified including ( ABCD1, PDE8B, NNt, NRB01, MCR, SPGL1, CDKn1c and PIK3CD).
• Hyperpigmentation is most common presenting feature followed by vomiting with lethargy and family history.
• Causes other than CAH should be suspected during evaluation of primary adrenal insufficiency.
• Whole exome sequencing helped in diagnosing majority of cases.
• More researches are needed to identify common genes in our society for developing Primary Adrenal Insufficiency panel.
• All male patients presenting with PAI to be screened for Adrenoleukodystrophy (VLCFFA) and adrenal hypoplasia (CK, Lipid, US, DAX1 gene). Also, Karyotyping is recommended for female patients.
• Consider screening all patients with PAI for proteinuria to R/o Nephrotic syndrome type 14.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology