Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.
Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient and her parents. The 7 exons of StAR gene were amplified by PCR and then sequenced
Results: The main symptoms were low fever, vomiting, no weight gain, poor response, deep lip color, dark skin, girl vulva. The adrenocorticotropic hormone (ACTH) was above 2000pg/ml, cortisol was 14.1nmol/L at 8 am, 17-hydroxyprogesterone was 2 nmol/L, androgens levels was normal, serum sodium was 125-133mmol/L, serum potassium was 5.6-8.1mmol/L. Karyotype analysis showed 46,XX. Sequencing of PCR amplified fragments showed that there were one heterozygous mutations and another deletion c.544C>T(p.r182c), c.714del (NM_000349) of StAR gene in this patient. By rectifying the disturbance of electrolyte, and treating with hydrocortisone and 9α fludrocortisone, etc, the patient has been stable so far.
Conclusion: The chromosome and StAR gene should be detected in patients with primary adrenocortical dysfunction with low 17-hydroxyprogesterone and androgens, especially in female phenotypes. Childrens with lipoid adrenal hyperplasia can survive for a long time and grow normally after appropriate corticosteroid replacement therapy.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology