Retrospective analysis of 23 Chinese children with congenital hyperinsulinism undergoing pancreatectomy.

INTRODUCTION: The aim of the study was to discuss therapeutic effect and prognosis of pancreatectomy in the treatment of congenital hyperinsulinism (CHI). MATERIAL AND METHODS: A total of 23 Chinese children with CHI, who had undergone pancreatectomy, were selected as the study objects. The clinical data, the results of the ¹8Fluoro-L-3-4 dihydroxyphenylalanine positron emission tomography/computerized tomography (¹8F-DOPA PET/CT) scanning, and the diagnosis, treatment, and follow-up were analysed retrospectively. RESULTS: Among the 23 cases, 14 patients were diagnosed with focal-type CHI via a ¹8F-DOPA PET/CT scan prior to the operation, with the lesions removed via partial pancreatectomy. After the operation, ten patients (71%) had normal blood glucose levels, while frequent feeding was required in four patients (29%) to control the hypoglycaemia. Three cases were diagnosed as diffuse-type CHI via preoperative scanning, two of which were treated by subtotal pancreatectomy. The other case was treated by near-total pancreatectomy, and the blood glucose level was normal following the operation. The remaining six cases were not diagnosed via the pancreatic scanning prior to the operation due to the limitation of certain conditions. Here, pancreatectomy was performed directly due to severe hypoglycaemia. CONCLUSIONS: ¹8F-DOPA PET/CT scanning was a reliable method for determining the histological type and localizing the lesion before the operation. Partial pancreatectomy for focal-type CHI had a high cure rate.

Pelvic Ultrasound Parameters of Long-Acting Depot Formulation of Leuprorelin in the Treatment of Idiopathic Central Precocious Puberty in Girls.

OBJECTIVE: The present study was designed to compare the changes in ovarian and uterine parameters in girls with idiopathic central precocious puberty (ICPP) before and after gonadotropin-releasing hormone analogues (GnRHa) treatment to determine which sensitive indexes effectively reflect the therapeutic effect. METHODS: Sixty girls diagnosed with ICPP were enrolled in the present study. Relevant data were recorded before treatment. Leuprorelin acetate microspheres were injected at a dose of 30-180 µg/(kg four weeks). Relevant parameters were measured and recorded every three months. Changes in each parameter were analyzed to evaluate the clinical effect of leuprorelin in the treatment of girls with ICPP. RESULTS: 1) The height grew at a constant rate. 2) The breasts retracted. 3) Changes in pelvic parameters: the volume of the ovary and uterus and major axes of the ovary, uterus, and cervix were reduced; there were no significant changes in vaginal thickness or the uterine fundal-cervical ratio (FCR). 4) Body mass index (BMI) increased. CONCLUSION: Pelvic ultrasound is helpful in evaluating the efficacy of GnRHA treatment. The changes of ovarian volume and the major axes of the ovary, uterus, cervix can be used as sensitive observation indexes.

MODY10 caused by c.309-314del CCAGCT insGCGC mutation of the insulin gene: a case report.

OBJECTIVE: This study aims to report the clinical features and gene mutation of a rare MODY10 patient in China. METHODS: This study summarizes the clinical data of a MODY10 child in the Endocrine Department of our hospital and an analysis and discussion of the results of the gene sequencing of the child. RESULTS: The child was a two-year-old boy. The main reason for his visit to our hospital was "founding hyperglycemia for 3 days". The fasting blood glucose was between 8.1-10.7 mmol/L, and two-hour postprandial blood glucose was between 10.6-12.6 mmol/L. Glycosylated hemoglobin was 8.5%, fasting C-peptide was 0.6 ng/mL, fasting insulin was 2.9 µIU/mL, and the islet antibody series were all negative. Whole-genome/exon sequencing results: Exon 3 of the insulin gene in the child carried a c.309-314del CCAGCT insGCGC heterozygous mutation. The mutation was a nonsense mutation, and family sequencing showed that the mutation originated from the mother of the child. The mother of the child was diagnosed with diabetes when she was a year old and developed bilateral fundus hemorrhage and right retinal detachment at the age of 23. CONCLUSION: Among Chinese children, the insulin gene c.309-314del CCAGCT insGCGC mutation may induce MODY10. For diabetic children with a negative islet autoantibody, gene detection and analysis is helpful for the diagnosis and typing of MODY.

[Floating-Harbor syndrome: a case report and literature review].

Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.

[Changes in 25-hydroxyvitamin D3 level in children with Henoch-Schönlein purpura].

OBJECTIVE: To examine the changes in 25-hydroxyvitamin D3 [25-(OH)D3] level in children with Henoch-Schönlein purpura (HSP) and its clinical significance. METHODS: A total of 92 HSP children were included in this study, and were divided into HSP nephritis (HSPN) group (31 cases) and HSP group (61 cases) based on the presence or absence of HSPN. Alternatively, the patients were divided into purpura alone group (22 cases), purpura with joint symptoms group (joint symptom group, 24 cases), purpura with gastrointestinal symptoms group (gastrointestinal symptom group, 20 cases), and purpura with joint and gastrointestinal symptoms (mixed group, 26 cases) based on their clinical symptoms. In addition, 42 healthy children were selected as healthy control group. The level of 25-(OH)D3 in each group was measured using enzyme-linked immunoassay. RESULTS: The 25-(OH)D3 level in the HSP and HSPN groups was significantly lower than that in the healthy control group (P<0.05), and the 25-(OH)D3 level in the HSPN group was significantly lower than that in the HSP group (P<0.05). Although there was no significant difference in the 25-(OH)D3 level between the joint symptom, gastrointestinal symptom, and mixed groups (P=0.22), the 25-(OH)D3 level in the three groups was all significantly lower than that in the purpura alone group (P<0.05). CONCLUSIONS: The level of 25-(OH)D3 is reduced in children with HSP, particularly those with HSPN or with joint and gastrointestinal symptoms. Therefore, the reduction in 25-(OH)D3 level may serve as a predictor of whether HSP is associated with other impairments.

[Changes in 25-hydroxyvitamin D3 level and its significance in children with Kawasaki disease].

OBJECTIVE: To investigate the changes in the serum level of 25-hydroxyvitamin D3 [25-(OH)D3] and its significance in children with Kawasaki disease (KD). METHODS: The clinical data of 242 KD children were collected. According to the presence or absence of coronary artery lesion (CAL), these children were classified into CAL group (63 children) and non-CAL (NCAL) group (179 children). According to the efficacy of intravenous immunoglobulin (IVIG), these children were classified into IVIG-sensitive group (219 children) and no-IVIG-response group (23 children). A total of 40 healthy children (control group) and 40 children with acute upper respiratory tract infection (AURI group) were enrolled as controls. Enzyme-linked immunosorbent assay was applied to measure the serum level of 25-(OH)D3. RESULTS: Before IVIG treatment, the AURI, NCAL, and CAL groups had significantly lower serum levels of 25-(OH)D3 than the control group (P<0.05); the CAL group had a significantly lower serum level of 25-(OH)D3 than the AURI and NCAL groups (P<0.05); the AURI, IVIG-sensitive, and no-IVIG-response groups had significantly lower serum levels of 25-(OH)D3 than the control group (P<0.05); the no-IVIG-response group had a significantly lower serum level of 25-(OH)D3 than the AURI and IVIG-sensitive groups (P<0.05). After IVIG treatment, the CAL group had a significantly lower serum level of 25-(OH)D3 than the NCAL and control groups (P<0.05); the no-IVIG-response group had a significantly lower serum level of 25-(OH)D3 than the IVIG-sensitive and control groups (P<0.05). CONCLUSIONS: KD children may experience a reduction in the serum level of 25-(OH)D3. With a greater reduction in the serum level of 25-(OH)D3, the possibility of CAL and KD with no response to treatment increases.