Background: We presented 20-year follow-up of two patients with 11β- hydroxylase deficiency, one of them has novel mutation.
Case 1: The male patient was diagnosed at the age of 9-months. He presented with penil growth and pubic hair. At diagnosis blood pressure was normal, his hormonal profile was distinctive of 11β-OHD, with elevated serum levels of 11-deoxycortisol (DOC 134 ng/ml, N: 01.18). Hydrocortisone was introduced immediately after diagnosis. Analysis of the CYP11B1 gene revealed a novel missense mutations (R374G). At the age of 6, his testes were 45 cc, bone age was 12 years. Precocious puberty was diagnosed also. He was treated with GnRH analogue and ciproteron acetat for the following 5 years. At age of 11 yr, he was hypertensive (140/100 mmHg), antihypertensive therapy was started. At 19-years-old scrotal ultrasonography was consisted with adrenal rest tumour. His final height was not well within the normal range (162 cm). Currently, he is mildly overweight (body mass index, 26.2 kg/m2) and normotensive (100/70 mmHg), and he receives glucocorticoid and antihypertensive therapy.
Case 2: The girl presented at age 2-months with external virilisation. Growth acceleration was remarkable during childhood. Blood pressure was within the normal range. Basal DOC was elevated (8.5 ng/ml). Analysis of the CYP11B1 gene revealed two previously known missense mutations (R43Q, A386V). Her height was 141.8 cm (+2.83 SDS) with an advanced BA of 16 yr when she was 8 years She had her menarche at 12 years Now she is 20-years old, her height is 142.1 cm (−3.5 SDS) and menstrual periods are irregular.
Conclusion: 11β-hydroxylase deficiency though rare, to understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of complications are important. We want to emphasise the complications of 11β-OHD during long-term follow-up.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology