ESPE Abstracts

Introduction:

• 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 82–144/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.

Objectives:

• Primary: To Identify Causes for primary adrenal insufficiency at KFSHRC.

• Secondary: to Identify causative genes and common features of PAI.

Methodology:

• 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.

Conclusion:

• 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.