ESPE Abstracts

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Based on the child's clinical manifestation,especially precocious puberty, primary adrenal insufficiency during the early stages, the child was misdiagnosed with 21-hydroxylase deficiency.However, the next generation sequencing performed on the isolated peripheral blood-DNA samples of the patient has confirmed the novel missense mutation with the heterozygous c.1411T>C (p.X471Q) occurred at the NR0B1 gene exon 2.This novel NR0B1 gene mutation was also confirmed by the Sangers DNA sequencing.Furthermore, a follow-up of the patient's clinical manifestations and laboratory examinations have confirmed the incidence of AHC,a X-link recessive genetic disorder in the patient.But because of the lack of regular clinic follow-up and medication, the patient had only grown to a height (156cm) that is far below his genetic target height (175.5cm).Also testicular dysplasia happened on the boy,so he has developed self-inferiority that directly affects his quality of life.Because the mutation of NROB1 gene can lead to a wide range of clinical phenotypes.,besides the classic type of primary adrenal insufficiency, low gonadotropin-related sexual dysplasia, and impaired spermatogenesis etc., the clinical phenotypes can also be precocious puberty, especially in infants and young children. The difference between NR0B1-related AHC and 21-OHD should be noted and early treatment and regular follow-up are essential for clinical outcome.