A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia

X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms.

Primary hypoparathyroidism accompanied by rhabdomyolysis induced by infection: A case report

BACKGROUND Primary hypoparathyroidism(HPT)is rarely seen in the clinic,and it can be combined with rhabdomyolysis.There are few reports about this phenomenon.Therefore,it is significant to explore the etiology that is conducive to early diagnosis,timely treatment,and preventing the recurrence.CASE SUMMARY A 63-year-old man was admitted to our hospital with a severe upper respiratory tract infection and progressing decreased myodynamia of the lower limbs.Blood tests showed creatine kinase>32000 U/L,creatinine 207.8μmol/L,calcium 1.28 mmol/L,myoglobin 558.7 ng/mL,and parathyroid hormone 0 pg/mL.He was diagnosed with primary HPT with rhabdomyolysis,and severe upper respiratory tract infection was considered to be the initial trigger.He responded well to supplementation of intravenous calcium gluconate and oral calcium as well as bedside hemodialysis,fluid hydration,infection control,protecting the liver,etc.Creatine kinase,myoglobin,and serum calcium returned to normal,and muscle strength improved significantly.Symptoms improved after symptomatic treatment.CONCLUSION Severe infection should be prevented,which is the key cause of rhabdomyolysis in patients with HPT.