ESPE2022 Poster Category 1 Adrenals and HPA Axis (52 abstracts)
Demographic, Clinical, Hormonal And Genetic Characteristics Of Children And Adolescents With Congenital Adrenal Hyperplasia Due To 11-Beta Hydroxylase Deficiency
Havva Nur Peltek Kendirci 1 , Elvan Bayramoğlu 2 , Zehra Aycan 2 , Nihal Hatipoğlu 3 , Seyit Ahmet Uçaktürk 4 , Şervan Özalkak 5 , Elif Özsu 6 , Emine Demet Akbaş 7 , Murat Aydın 8 , İsmail Dündar 9 , Oya Ercan 10 , Hüseyin Demirbilek 11 & Semra Çetinkaya 2
1Hitit University, Faculty of Medicine, Department of Pediatric Endocrinology, Çorum, Turkey; 2University of Health Sciences, Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey; 3Erciyes University, Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey; 4Ankara Training and Research Hospital, Department of Pediatric Endocrinology, Ankara, Turkey; 5University of Health Sciences, Gazi Yaşargil Training and Research Hospital, Department of Pediatric Endocrinology, Diyarbakır, Turkey; 6Ankara University, Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey; 7Gazi University, Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey; 8Ondokuz Mayıs University, Faculty of Medicine, Department of Pediatric Endocrinology, Samsun, Turkey; 9Malatya Training and Research Hospital, Pediatric Endocrinology Clinic, Malatya, Turkey; 10Istanbul University, Cerrahpasa Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey; 11Hacettepe University, Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
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.
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