ESPE Abstracts

Objective: To investigate the etiology and clinical features of Chinese children with PAI.

Method: 427 children (age 0–18 years) with PAI followed at our institution between September 1989 and March 2016 were studied.

Results: 1. 228 males and 199 female (1.14:1) were included. Median age at diagnosis was 1.66 (10th–90th, 0.06~8.73 yrs.

2. An identified diagnosis(clinical or genetic) was obtained in 93.4% children (399 of 427). In the other unidentified 28 cases (6.6%), CAH had been excluded.

1) Of which 399 identified cases,

(1) 351 cases (82.2%) were CAH, which 21OHD were the most common etiology (341, 97.2%). The other CAH form were 17OHD (5, 1.4%), 11OHD (3, 0.9%), CLAH (2, 0.6%).

(2) 48 cases (11.2%) were non-CAH. The etiology were Adrenoleuokodystrophy (ALD) (22, 45.8%), DAX1 mutation (19, 39.6%), Autoimmune Polyglandular Syndrome (APS) (3, 6.8%), Triple A Syndrome (AS) (2, 4.2%), SF1 mutation (1, 2.1%), Adrenalectomy (1, 2.1%).

2) Comparison based on sexual phenotype of 58 cases non-21OHD

(1) Male were predominantly in this study (49/58, 84.5%) with ALD being the most common (49%, 22/49). The other were DAX1 mutation (38.8%,19/49), APS (6.1%, 3/49). 11OHD, CLAH, AS and adrenalectomy only accounted for 2.0% (1/49).

(2) Female patients were fewer than male’s (9/58, 15.5%) with 17OHD being the most common, accounting for 44.4% (4/9). The other etiology like 11OHD, LCAH, SF1, AS were rarer, which accounted for 22.2% (2/9), 11.1% (1/9), 11.1% (1/9), 11.1% (1/9) of cases respectively.

3) Clinical features: genital ambiguity was common, accounted for 42.4% (181/427) of cases. The other features include digestive symptoms 35.4%, growth failure 26.7%, gonadal associated symptom 21.1%, hyperpigmentation 9.8%, demyelination of central nervous system 3.3%, prolonged jaundice 2.3%, fatigue 2.3%, convulsion 2.3%. 62.3% patients presented 2 or more onset of symptoms, 4.2% patients with adrenal crisis onset. Physically examination showed that only 57.6% patients were exhibiting hyperpigmentation. In non-21OHD group, hyperpigmentation were common (82.6%)(significantly higher than CAH 21OHD, P<0.05). Genital ambiguity only accounted for 8.1%. The other features are digestive symptoms 12.8%, fatigue 12.8%, growth failure 9.3%, gonadal associated symptom 8.1, prolonged jaundice 4.7%, convulsion 3.5% in turn. 14% patients were having adrenal crisis onset (significantly higher than CAH 21OHD, P<0.05).

Conclusion: PAI in pediatric population is commonly in congenital forms, with CAH being the most frequent. Children with PAI have wide range symptoms, lack specificity. Identification its underlying cause is recommended.