Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.

OBJECTIVE: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed. METHODS: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People's Hospital of Xinjiang Uygur Autonomous Region in December 2016. The clinical data and related gene-sequencing results were analyzed. The detected mutations were verified in nine members of the family. RESULTS: Gene-sequencing results revealed that the proband and the other three members of the family (proband, proband's mother's younger brother and the proband's mother's younger brother's younger daughter, and proband's second elder sister) shared the following mutations: Ile173Asn, Ile237Asn, Val238Glu, Met240Lys, Val282Leu, Leu308Phefs*6, Gln319Ter, Arg357Trp, and Arg484Profs. The Val282Leu mutation was heterozygous in the proband's mother's younger brother's younger daughter, but homozygous in the other three individuals. The father of the proband, the elder brother of the father of the proband, the third younger brother of the father of the proband, and the elder sister of the proband all carried only the Val282Leu mutation. CONCLUSION: Val282Leu is the gene responsible for non-classical 21-hydroxylase deficiency. Screening for this gene in the offspring of patients with non-classical 21-hydroxylase deficiency may help to identify cases early.

[Secretion and action of insulin among Han and Uygur subjects with impaired fasting glucose and impaired glucose tolerance from Xinjiang].

OBJECTIVE: To compare insulin secretion and action with impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and combined glucose intolerance (CGI, IFG and IGT) between Han and Uygur populations living in Xinjiang. METHODS: A multicenter cross-section survey (The Third Diabetes Epidemiological Survey in China) was conducted in Xinjiang from 2007 to 2008 including 2203 subjects (Han 1118, Uygur 1085) underwent an oral glucose test (OGTT). Homeostasis model assessment on insulin resistance (HOMA-IR) and ß cell function (HOMA-ß) were calculated. The ratio of incremental insulin (ΔI30) and glucose (ΔG30) response was used to evaluate the early insulin secretion. ΔI30/ΔG30/HOMA-IR was used to evaluate the glucose disposition index (DI). RESULTS: There were differences noticed regarding the waist circumstances (WC), body mass index (BMI), lipids, 0 and 120 min insulin levels in different glucose tolerance status between the Hans and Uygurs. Data related to NGT, IFG, CGI, WC from the Uygurs was significantly different from that of the Hans (P < 0.01), while the NGT, IFG, IGT and 120-minute plasma insulin levels of the Hans were significantly different from that of the Uygurs (P < 0.01). HOMA-IR and HOMA-ß in Hans were significantly different from those of the Uygurs (P < 0.01). There were significant differences noticed on data related to ΔI30/ΔG30, and DI among the two populations with different ethnicities. CONCLUSION: Regarding the regulation of impaired glucose, the insulin resistance among the Hans was significantly different from that of the Uygurs, while there seemed to be a compensatory secretion of pancreatic ß cells which played the role of maintaining blood glucose homeostasis.