ESPE Abstracts (2019) 92 P2-39

ESPE2019 Poster Category 2 Bone, Growth Plate and Mineral Metabolism (36 abstracts)

Bone Mineral Status in Adults with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Wafa Ben Othman 1 , Faten Hadjkacem 1 , Imen Gargouri 1 , Wajdi Safi 1 , Nadia Charfi 1 , Nabila Rekik 1 , Thouraya Kamoun 2 , Mouna Mnif 1 & Mohamed Abid 1


1Endocrinology Department, Hedi Chaker Hospital, Sfax, Tunisia. 2Pediatric Department, Hedi Chaker Hospital, Sfax, Tunisia


Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.

Subjects and Methods: We underwent a prospective study of 26 patients over 16 years of old with CAH.

Results: The cases included 26 patients (M: 11, F: 15) with CAH due to 21-hydroxylase deficiency with a mean age of 27.4 years (16.5-48 years). Eighteen patients had the classical CAH form and the remaining 8 patients had the non-classical form. The mean body mass index was 26,9 ± 4,27 kg/m2 (20,3-34,8 kg/m2). The most commonly used drug was hydrocortisone which was used by 21 cases. Five cases had been managed on dexamethasone alone. The mean serum calcium level was 2,32 ± 0,16 mmol/l (1,91-2,55 mmol/l) and mean serum phosphorus 1,08 ± 0,15 mmol/l (0,8-1,48 mmol/l). The mean parathormon was 89,8 ± 29,4 pg/ml (4,9-141 pg/ml) and mean 25 hydroxy vitamin D was 15,8 ± 8,6 ng/ml (4-32 ng/ml). Vitamin D deficiency was observed in twenty two cases. Only one patient 23,5 years-old with the classical CAH form had an anterior non-traumatic vertebral compression fracture L1-L2. Of the 25 studied patients by bone densitometry, 10 showed bone demineralization: 1 case of trabecular osteoporosis and 9 cases of osteopenia.

Conclusion: It seems difficult to conclude on the bone status of adult patients with 21-hydroxylase deficiency. Most studies are retrospective with heterogeneous population that includes limited number of patients, often under the age of 50. However, it seems that bone density is most often preserved in patients who benefit from recent treatment protocols using more physiological doses of glucocorticoids.

Volume 92

58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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