ESPE Abstracts (2019) 92 P2-15

Rare Causes of Primary Adrenal Insufficiency at King Faisal Specialist Hospital Retrospective Study

Afaf Alsagheir1, Mohammed Alotaibi2, Lamya Alrayes3


1King Faisal Specialist Hospital and research Center, Pediatric Endocrinology, Riyadh, Saudi Arabia. 2King Faisal Specialist Hospital and Research Center, Pediatric, Riyadh, Saudi Arabia. 3Alfaisal University, Riyadh, Saudi Arabia


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.

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