ESPN 51th Annual Meeting

ESPN 2018


 
A rare cause of secondary hypertension in a girl: 17 alpha hydroxylase deficiency
ATILLA GEMICI 1 BAHRIYE ATMIS 1 RAZIYE ERGÜN 2 ERDAL KURNAZ 3 OĞUZHAN YARALI 4 ATILLA ÇAYIR 3

1- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRIC UROLOGY
3- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF PEDIATRIC ENDOCRINOLOGY
4- ERZURUM REGION TRAINING AND RESEARCH HOSPITAL,DEPARTMENT OF MEDICAL GENETICS
 
Introduction:

 Hypertension resulting from hormonal excess accounts for a small proportion of children with secondary hypertension. 17 ɑ hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia.

Material and methods:

 We reported a case of twelve years old girl, who presented with hypertension.

Results:

 In her physical examination  blood pressure was 140/85mmHg (>95thpercentil), an 1/6 systolic murmur at all foci were detected, her puberty was Tanner stage 1. On presentation, her weight was 49kg, height was 153cm, her body mass index(BMI):20.9 kg/m². Laboratory investigations revealed normal serum urea and creatinine and normal serum electrolytes. We started amlodipine for hypertension. She had grade 1 hypertensive retinopathy and had normal left ventricule wall. She had low serum cortisol but increased adrenocorticotropic hormone(ACTH) levels. Adrenal insufficieny was considered and ACTH stimulation test was perfomed and hydrocortisone treatment was started with the diagnosis of congenital adrenal hyperplasia(CAH). In the laboratory study of the patient who had not started puberty estrogen was low, FSH and LH were high. Hypergonadotrophic hypogonadism was diagnosed in patients with these findings. Karyotyping revealed 46,XYchromosome. Thus, she was diagnosed as having CAH with 17ɑhydroxylase deficiency (17OHD) and  she underwent genetic testing for 17OHD. Genetic analysis is still pending. After started hydrocortisone treatment she had normal blood pressure levels.

Conclusions:

  Although endocrine causes of secondary hypertension are rare, proper diagnosis of endocrine hypertension ensure the physician with optimal treatment for primary disease and achive remission in hypertension dramatically.