A Retrospective Analysis of Patients with Short Stature in the South of China between 2007 and 2015.

OBJECTIVE: To describe the demographic features of children with short stature and poor growth in the south of China and provide better guidance on clinical strategy and decisions. STUDY DESIGN: This retrospective, chart review study analyzed children with short stature and poor growth admitted to the Department of Endocrinology of Children's Hospital of Nanjing Medical University from Jan 2007 to Dec 2015. RESULTS: The chart review yielded 4142 patients, including 2546 boys and 1596 girls (P < 0.001); the number of patients gradually increased per year from 2007 to 2015. There was an upward trend in the average levels of height standard deviations (SDs) during the study period (P < 0.001), both in males (P < 0.001) and females (P < 0.001). Mean height SDs were smaller in females (-2.42±1.09) than males (-2.33±1.03; P = 0.01). The percentage of females admitted at normal height (33.83%) was lower than that of males (37.20%; P = 0.028). The peak age range of hospitalization in males was 10-12 years of age, while females were generally admitted earlier-8-10 years. CONCLUSIONS: There was an increasing tendency to focus on children's height. Parents and pediatricians were recommended to pay more attention to the treatment needs of girls while avoiding excessive treatment of those who merely appear not to be tall enough without a clear medical issue related to growth, especially for boys.

GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.

BACKGROUND: The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3. METHODS: Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation analysis. RESULTS: Sequence analysis of GATA3 revealed a heterozygous nonsense mutation in this family: a mutation of GATA3 at exon 2 (c.515C >A) that resulted in a premature stop at codon 172 (p.S172X) with a loss of two zinc finger domains. CONCLUSION: We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.