ESPE2022 Poster Category 1 Adrenals and HPA Axis (52 abstracts)
Introduction: 11-beta hydroxylase deficiency(11β-OHaseD) is the second frequent congenital adrenal hyperplasia(CAH) form. This study aimed to determine demographic and genetic characteristics and final height, to evaluate the long term clinical follow-up of children&/adolescents with 11β-OHaseD.
Material and Methods: The study is designed as a multicenter, national, retrospective. 60 cases from 11 Pediatric Endocrinology Center were included.
Results: The mean diagnosis of age was 3.5±4.3(0.0-16.5) years. The mean follow up period was 7.7±4.9(0.8-20.0) years. 47 cases had karyotype data and 55.3%(n:26) was 46 XX. 87%(n=41) of these cases were brought up compatible with karyotypic gender. 77% of all cases(n=46) had consanguinity between parent. 64%(n=38) had similar disease in family. The complaints at first approval were ambigious genitalia [35%(n=21)], pubic hair [23%(n=14)], sibling with CAH [12%(n=7)], macrogenitalia [8%(n=5)]. At first admission the mean weight&height&BMI SDS were 0.82±1.75(-3.80-4.35), 0.57±1.96(-3.60-5.38), 0.42±1.65(-4.50-2.92) respectively. The mean bone age at first admisson was 7.7±4.9(0.2-17.0). The median pubertal stage was Tanner Stage III. 18.2%(n=10) axillary hairs, 20%(n=12) hypospadias, 8%(n=5) cordea, 37%(n=22) labioskrotal fusion were explored at first admission. 17% case had precocious puberty (treated with GnRH analogs). 32%(n=19) had surgical operations [18%(n=11)cliteroplasty and/or vaginoplasty, 8%(n=5)hysterectomy+ooferectomy, 5%(n=3)testicular prosthesis, 3%(n=2) correction of hypospadias]. 8% of all cases(n=5) developed adrenal REST tumors, and these cases had treated with high doses glucocorticoids with 25.0±9.6(12-36) months [40%(n=2) total recovery, 40%(n=2) partially recovery, 20%(n=1) growth in REST tumor (treated with testicular sparing surgery)]. 32% of all cases(n=19) had final height [final height SDS -2.25±2.0(-7-0.94)]. 45% of all cases (n=27) had CYP11B1 gene analysis [74%(n=20) homozygous, 11%(n=3) heterozygous, 4%(n=1) combined heterozygous mutation and 7%(n=2) had deletion].
Conclusion: In our study, we found that cases with 11β-OHaseD could still be diagnosed late. Therefore, we found that height potentials were negatively affected. We thought that it is important to provide genetic counseling and prenatal diagnosis for other children, especially after a child with a diagnosis of CAH is born in families with consanguinity. As a result, the compilation of the results obtained from the cases followed up with the diagnosis of CAH can provide significant improvements in the follow-up of the newly diagnosed cases.
15 Sep 2022 - 17 Sep 2022