ABSTRACT
BACKGROUND: Adrenal insufficiency (AI) is an event caused by an inadequate secretion or action of adrenal hormones. It can be classified as primary (1 degree) and secondary (2 degree). AI may result in severe morbidity and mortality when undiagnosed or ineffectively treated. OBJECTIVE: To determine the etiologies of AI in Thai children. MATERIAL AND METHOD: Data of children with AI presented to the authors' pediatric endocrine service between 1982 and 2002 (20 years) were retrospectively collected and analyzed. RESULTS: AI was diagnosed by clinical and laboratory data in 73 children (31 boys and 42 girls). Sixty-two (84.9%) patients had 1degree AI while 11 (15.1%) had 2 degree AI. The majority of patients with 1 degree AI (87.1%) were diagnosed with congenital adrenal hyperplasia (CAH). Other causes of 1 degree AI were uncommon such as ACTH unresponsiveness (4.8%) and no definite diagnosis (8.1%). Most children with 1 degree AI presented with hyperpigmentation. Causes of 2 degree AI were as follows: panhypopituitarism (63.6%), isolated ACTH deficiency (9.1%), and low birth weight (27.3%). CONCLUSION: In the present study, CAH was the most common cause of 1 degree AI while panhypopituitarism was the most common cause of 2 degree AI. Other causes of AI were quite uncommon. Definite causes of AI have not yet been identified in some children. Further clinical observation and special tests including molecular studies in these children are warranted for diagnostic and prognostic importance.
Subject(s)
Adrenal Insufficiency/etiology , Adolescent , Adrenal Hyperplasia, Congenital/complications , Adrenal Insufficiency/epidemiology , Child , Child, Preschool , Female , Humans , Hyperpigmentation , Hypopituitarism , Infant , Infant, Newborn , Male , Retrospective Studies , Risk Factors , Thailand/epidemiology , Time FactorsABSTRACT
Three siblings with a family history of consanguinity presented with short stature and two of the patients had leg deformity. None of them experienced ocular or renal symptoms at presentation. After the pediatricians found characteristics of Fanconi syndrome, an ophthalmic consultation was requested Ocular examination revealed typical cystine crystals deposited in the cornea and conjunctivae. No crystal deposits were found elsewhere in the eyes. Fundoscopic examination was normal. Two patients who underwent a complete ocular examination were diagnosed as adolescent cystinosis. The youngest patient who lost to follow up before completed ocular examination was suspected for adolescent cystinosis. This is the first report of cystinosis with ocular manifestation from Thailand.
