Clinical features of hypopituitarism with nonalcoholic fatty liver disease after sellar tumor surgery in children / 临床肝胆病杂志

Objective To investigate the clinical features of hypopituitarism with nonalcoholic fatty liver disease (NAFLD) in children after sellar tumor surgery and the association between hypopitarism and NAFLD in children. Methods A retrospective analysis was performed for the clinical data of children with hypopituitarism and NAFLD after sellar tumor surgery who were followed up regularly in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2017 to December 2021, and their clinical features were analyzed. Results There were 32 children with regular follow-up and complete clinical data after sellar tumor surgery, and 10 children (31.25%) developed NAFLD, among whom there were 5 boys and 5 girls. Among these 10 children, 9 had craniopharyngioma and underwent surgical treatment, and 1 had germinoma and underwent local radiotherapy. The 10 children had a median age of 8.4(6.29.8) years at the diagnosis of hypopituitarism and a median age of 11.9(8.7-12.6) years at the diagnosis of NAFLD. The median number of years from the diagnosis of hypopituitarism to the diagnosis of NAFLD was 2.0(1.4-4.0) years. At the diagnosis of NAFLD, all 10 children had obesity, and body mass index (BMI) was increased by 7.26±4.25 kg/m 2 on average since the diagnosis of hypopituitarism; the 10 children had a mean fasting blood glucose level of 4.67±0.55 mmol/L, a mean fasting insulin level of 25.40±5.93 μIU/ml, and a mean HOMA-IR index of 5.26±1.29. Among these 10 children, 9 had hypertriglyceridemia, and 1 had elevated triglyceride, with a mean level of 3.08±1.09 mmol/L; 6 children had hypercholesterolemia, with a mean level of 5.67±1.25 mmol/L; 8 children had high-density lipoprotein cholesterolemia, with a mean level of 3.97±1.27 mmol/L. After the diagnosis of NAFLD, 2 children were treated with recombinant human growth hormone and metformin and achieved reductions in BMI, HOMA-IR, and triglyceride after treatment, and total cholesterol and low-density lipoprotein cholesterol were reduced to the normal range. Conclusion Children may experience weight gain, hypopituitarism, insulin resistance, and dyslipidemia after sellar tumor surgery, which may lead to the onset of NAFLD. Weight management and active pituitary hormone replacement therapy are recommended for such children, as well as routine screening and management of fatty liver disease.

Clinical and genetic analysis of a child with Schaaf-Yang syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS).@*METHODS@#Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant.@*RESULTS@#The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic.@*CONCLUSION@#The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.

The analysis of gene mutation and diagnosis and treatment of 5α-reductase 2 deficiency in a child / 临床儿科杂志

Objective To explore the clinical feature and gene mutation in steroid 5α-reductase 2 deficiency (SRD5A2). Method The clinical data of SRD5A2 in a child with vulva abnormality as the first manifestation was retrospectively analyzed. Results This was a 29-month-old child, whose social gender was female. The level of her basic luteinizing hormone (LH) was 0.07 mIU/mL, and follicle-stimulating hormone was (FSH) 0.39 mIU/mL. The baseline levels of testosterone (T), dihydrotestosterone (DHT), 17-hydroxyprogesterone (17-OHP) and androstendione (A2) were 0.06 ng/mL, 19.67 pg/mL, 1.20 ng/mL, and 0.07 ng/mL respectively. Those levels were 3.65 ng/mL, 68.25 pg/mL, 51.72 ng/mL, and 14.70 ng/mL respectively after Human chorionic gonadotropin (HCG) stimulation. The levels of her anti-mullerian hormone (AMH) was 22.97 ng/mL, and inhibin B (INH-B) was 274.4 pg/mL. The uterus and ovaries were not detected by Pelvic ultrasound and MRI. The chromosome showed 46, XY. Sex determination (SRY) gene detection showed normal. Androgen receptor (AR) gene detection showed negative. There was pathogenic mutation of 5α-reductase 2 (SRD5A2) gene in peripheral blood of the child and her parents. The penis grows 2 cm after 4 months of treatment with 2.5% DHT gel. Conclusion SRD5A2 is diagnosed mainly based on the increase of T/DHT after HCG stimulation experiment and it can be confirmed by detection of pathogenic SRD5A2 mutation.

Medical treatment of peripheral precocious puberty / 中华实用儿科临床杂志

The etiology of peripheral precocious puberty(PPP) is complex and varied,which is mainly categorized into either genetic or acquired disorders.Albright-McCune syndrome and familial male-limited precocious puberty are the 2 most important genetic PPPs.The purposes of therapy are to halt pubertal development and restore sex steroids to prepubertal values and delayed rate of skeletal maturation in order to maximize height potential.The several major categories of clinical drugs for PPP include anti estrogen/androgen,estrogen receptor blocker,aromatase inhibitors and cytochrome P450 inhibitors and so on.

Etiological analysis of vaginal bleeding in girls / 中华实用儿科临床杂志

Objective To investigate the etiological factors fc,r abnormal vaginal bleeding in girls.Methods Data of 65 female children aged from 3 months and 10 years old with abnormal vaginal bleeding,who were treated in Department of Endocrinology,Wnhan Children's Hospital from March 2009 to October 2013 were collected by using medical records and follow-ups.By means of pelvic ultrasound,bone age assessment,hysteroscope,hormone level and genetic testing,the causes of the disease were analyzed.Results Of 65 patients,37 cases had breast developed,21 ca-ses had nipple,areola and vulva pigmentation increased,16 cases with genital secretions increasing and odor,the height growth in 21 cases accelerated,abdominal pain was presented in 5 cases,and 6 cases had skin milk coffee spots.The leading etiological factors for vaginal hemorrhage in these girls were sexual precocity.The peripheral precocious puberty accounted for the first place (30/65 cases,46.2％),and followed by the central precocious puberty (20/65 cases,30.8 ％).Hyperphlogosis accounted for 12.3 ％ (8/65 cases),vaginal foreign body accounted for 6.2 ％ (6/65 cases),and genital tract tumors accounted for 4.6％ (3/65 cases).In the 30 peripheral precocious puberty cases,exogenous precocious puberty accounted for 16.9％ (11 cases),8 cases(12.3％) were of solitary ovarian cyst,8 cases(12.3％) of McCune-Albright syndrome,and 3 cases of ovarian tumors.In the 20 central precocious puberty cases,idiopathic central precocious puberty accounted for 18.5％ (12 cases),4 cases(6.2％) were of organic disease of central nervous system,and 4 cases (6.2％) of hypothyroidism.Of 65 children,12 cases lost follow-up and 1 case abandoned treatment.The rests received appropriate treatment according to different causes,and the vaginal bleeding were effectively controlled after 3 months to 2.5 years of follow-ups without recurrence of bleeding.But there were 2 cases of isolated ovarian cyst and 3 cases of McCune-Albright syndrome turned into central precocious puberty.Conclusions Endocrine diseases are the common factors for children's vaginal bleeding.Neoplasm is not rare in girl's abnormal vaginal hemorrhage.

Improving thermal stability of xylanase by introducing aromatic residues at the N-terminus / 生物工程学报

Thermophilic and alkalophilic xylanases have great potential in the pulp bleaching industry. In order to improve the thermal stability of an alkaline family 11 xylanase Xyn11A-LC, aromatic residues were introduced into the N-terminus of the enzyme by rational design. The mutant increased the optimum temperature by 5 degrees C. The wild type had a half-time of 22 min at 65 degrees C and pH 8.0 (Tris-HCl buffer). Under the same condition, the mutant had the half-time of 106 min. CD spectroscopy revealed that the melting temperature (T(m)) values of the wild type and mutant were 55.3 degrees C and 67.9 degrees C, respectively. These results showed that the introduction of aromatic residues could enhance the thermal stability of Xyn11A-LC.