Transsphenoidal surgery for prolactinomas in male patients: a retrospective study / 亚洲男科学杂志(英文版)

Male patients with prolactinomas usually present with typical hyperprolactinemia symptoms, including sexual dysfunction and infertility. However, clinical factors related to sexual dysfunction and surgical outcomes in these patients remain unclear. This study aimed to investigate the outcomes of male patients with prolactinomas after transsphenoidal surgery and the risk factors affecting sexual dysfunction. This study was conducted on 58 male patients who underwent transsphenoidal surgery for prolactinomas between May 2014 and December 2020 at the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China. We evaluated the sexual function of patients before and after surgery through International Index of Erectile Function-5 scores, libido, and frequency of morning erection. Of the 58 patients, 48 (82.8%) patients had sexual intercourse preoperatively. Among those 48 patients, 41 (85.4%) patients presented with erectile dysfunction. The preoperative International Index of Erectile Function-5 scores in patients with macroprolactinomas were significantly higher than those in patients with giant prolactinomas (17.63 ± 0.91 vs 13.28 ± 1.43; P = 0.01). Postoperatively, the incidence of erectile dysfunction was 47.9%, which was significantly lower than that preoperatively (85.4%; P = 0.01). Twenty-eight (68.3%) patients demonstrated an improvement in erectile dysfunction. Tumor size and invasiveness were significantly correlated with the improvement of erectile dysfunction. Preoperative testosterone <2.3 ng ml-1 was an independent predictor of improvement in erectile dysfunction. In conclusion, our results indicated that tumor size and invasiveness were important factors affecting the improvement of sexual dysfunction in male patients with prolactinoma. The preoperative testosterone level was an independent predictor related to the improvement of erectile dysfunction.

Molecular Analysis of Duchenne muscular dystrophy / 中华实用儿科临床杂志

Objective To detect the mutation type and size variation of the dystrophy gene in Duchenne muscular dystrophy(DMD) patients,and discuss the strategy of molecular genetic diagnosis for DMD.Methods Multiplex ligation-dependent probe amplification(MLPA) and next-generation sequencing(NGS) were applied for genetic detection in patients with clinical suspected DMD.Sanger sequencing was performed to confirm the results.Results Pathogenic mutations were found in 28 cases with DMD.Twenty-two of the 28 cases were found to be positive with MLPA analysis,16 cases with deletion mutations,4 cases with duplication,and 2 cases with both deletion and duplication mutations.Then,NGS technology was performed to detect 5 cases with MLPA positive and 1 case with MLPA negative,which were chosen optionally,and 3 cases showed deletion (exon51 del,chrX:31779857-31795289; exon53 del,chrX:31685440-31747548; exon51-55 del,chrX:31632504-31827732) and 2 cases of duplication (exon45 dup,chrX:31970766-32023816 ; exon55 dup,chrX:31540860-31649750),which were consistent with MLPA analysis.Meanwhile,NGS could determine the location of break point and the size of DNA segments accurately and also detect one point mutation which was MLPA negative.In the end,Sanger sequencing was performed to confirm this point mutation.Conclusions The mutational spectrum of the DMD gene is complex,including deletion/duplication and point mutations,and MLPA is an efficient method for detecting paternal deletion and duplication of DMD,while NGS can not only detect both deletion/duplication and point mutations,but also determine the location of break point and the size of gene segments accurately.Next-generation sequencing may be a powerful technology for early clinical diagnosis,prognostic judgment and prenatal diagnosis of DMD.

Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.</p><p><b>METHODS</b>PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.</p><p><b>RESULTS</b>A heterozygous 743G>A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister.</p><p><b>CONCLUSIONS</b>G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.</p>

Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome / 中国当代儿科杂志

<p><b>OBJECTIVE</b>Prader-Willi syndrome (PWS) with different pathogenesis has different clinical manifestations, prognosis and genetic risks. Pathogenesis of the disease cannot be explained by conventional diagnostic method MS-PCR. This study employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for the diagnosis of PWS in order to explore the role of this method in the diagnosis and assessment of pathogenesis of PWS.</p><p><b>METHODS</b>A system antithetical method was employed. Peripheral blood samples were collected from 30 children for MS-PCR. Of the 30 children, 16 were diagnosed with PWS by MS-PCR and the other 14 showed negative MS-PCR. MS-MLPA kit Me028 was used to detect DNA extracted from the 30 samples.</p><p><b>RESULTS</b>The results showed by MS-MLPA and MS-PCR were identical. MS-MLPA demonstrated that 4 cases were maternal uniparental disomy and 12 cases were paternal dfeletion in 15q11-q13 region.</p><p><b>CONCLUSIONS</b>MS-MLPA is a reliable method of genetic testing for PWS which can distinguish pathogenesis of PWS.</p>