Introduction: Primary adrenal insufficiency (PAI), though uncommon, is a condition with a high morbidity and mortality especifically in children where presentation may vary and mimic many common childhood illnesses. Many etiologies have been reported worldwide of which CAH was the commonest etiology in children. There is no published data on PAI in Sudanese children and to my knowledge, this is the first report in Africa that looks for clinical presentation and etiology of non-CAH (PAI) in children. We aimed to determine the clinical features at presentation, etiology and diagnostic challenges of PAI in children in a limited resource country like Sudan.
Methods: Descriptive, retrospective, hospital based study, was carried out in two major pediatric endocrinology centers in Khartoum state, Sudan from January 2006 to December 2018. Patient's records were reviewed (both in and out patient). All patients who have CAH as a known etiology were excluded. Clinical features at presentation as well as the possible etiology were described and difficulties encountered in the diagnosis, availability of certain investigations and their costs as well as barriers of management and availability of certain medications were addressed.
Results: In a total of ninety-seven patient's records who were referred as suspected PAI, sixty-four patients met the inclusion criteria for diagnosis of which 40 were males and 24 were females. Median age at presentation was 6.27±4.41 years (range: 0.02 to 17 years). Symptoms at presentation included hyperpigmentation, fatigability, abdominal pain, diarrhea, vomiting, seizures and shock. Duration of symptoms before first presentation varied and 50% had wrong diagnosis at first presentation. We were able to determine a diagnosis in 39 (61%) patients of whom 26 were Allgrove syndrome, seven were ALD and 17 patients had possible autoimmune etiology. Diagnosis was difficult to be settled in 13 patients who need a genetic testing. Mean adrenocorticotrophic hormone (ACTH) at diagnosis was (2185 ± 2172 pg/ml). Four patients had elevation of very long chain fatty acids, while 2 had MRI abnormalities suggestive of ALD. Most of these investigations were costy while many patients have difficulty to access lifesaving medications.
Conclusions: Symptoms of increased pigmentation, lethargy, hypotension or electrolyte abnormalities, although unspecific and similar to many other childhood illnesses, yet should lead to consider this diagnosis as early intervention could further alter the outcome. Increasing awareness among pediatricians and accessibility to molecular genetics through help, have helped in diagnosing some of these cases.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology