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| 1 | Growth hormone therapy for children with KBG syndrome:A case report and review of literature显示文摘BACKGROUND The incidence of short stature in KBG syndrome is relatively high.Data on the therapeutic effects of growth hormone(GH)on children with KBG syndrome accompanied by short stature in the previous literature has not been summarized.CASE SUMMARY Here we studied a girl with KBG syndrome and collected the data of children with KBG syndrome accompanied by short stature from previous studies before and after GH therapy.The girl was referred to our department because of short stature.Physical examination revealed mild dysmorphic features.The peak GH responses to arginine and clonidine were 6.22 and 5.40 ng/mL,respectively.The level of insulin-like growth factor 1(IGF-1)was 42.0 ng/mL.Genetic analysis showed a c.2635 dupG(p.Glu879fs)mutation in the ANKRD11 gene.She received GH therapy.During the first year of GH therapy,her height increased by 0.92 standard deviation score(SDS).Her height increased from-1.95 SDS to-0.70 SDS after two years of GH therapy.There were ten children with KBG syndrome accompanied by short stature who received GH therapy in reported cases.Height SDS was improved in nine(9/10)of them.The mean height SDS in five children with KBG syndrome accompanied by short stature increased from-2.72±0.44 to-1.95±0.57 after the first year of GH therapy(P=0.001).There were no adverse reactions reported after GH treatment.CONCLUSION GH treatment is effective in our girl and most children with KBG syndrome accompanied by short stature during the first year of therapy. | Xiu-Ying Ge Long Ge Wen-Wen Hu Xiao-Ling Li Yan-Yan Hu | 2020 | World Journal of Clinical Cases2020，8，6： | 2 |
| 2 | Evaluation of referrals for genetic investigation of short stature in Hong Kong | LAM Wai Fan Fanny, HAU Wai Lok Edgar and LAM Tak Sum Stephen Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China (Lam WFF, Hau WLE and Lam TSS) | 2002 | Chinese Medical Journal2002，，4： | 2 |
| 3 | Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report显示文摘BACKGROUND The SEMA3A gene,which is located at 7q21.11,is involved in hypothalamic neuron migration,heart development,kidney development,and skeleton metabolism.Mutation of the SEMA3A gene is associated with Kallmann syndrome 16 with or without a normal sense of smell.In addition,two case reports showed that mutation of the SEMA3A gene could cause short stature,low gonadotropin,hypogonadism,thoracic deformity,a high scapula,rib and lower limb deformity,facial deformity(long face,epicanthic folds,backwards ears),and arterial malformation.CASE SUMMARY We reported the case of a 26-year-old Chinese man who was admitted because of short stature.Physical examination showed that he had many abnormal symptoms,including a short neck,facial moles,knee valgus,transverse palm,continuous grade 5/6 murmurs in the pulmonary auscultation area,no whiskers,or pubic hair,no Adam’s apple,short penis and cryptorchidism.Radiological examination showed pituitary,gonad,heart,kidney and skeletal dysplasia.The laboratory tests revealed low growth hormone,luteinizing hormone,folliclestimulating hormone,testosterone and estrogen.Clinical whole-exome detection showed that our patient,unlike previously reported patients,has a new SEMA3A gene mutation(c.950A>G).Now,his height has increased by 3 cm.In addition,he has a good appetite and reduced subcutaneous fat over 3 mo of recombinant human growth hormone injections therapy.Unfortunately,he refuses further treatment about gonad.CONCLUSION Patients who come to a hospital because of their short stature must undergo gene detection if they have other simultaneous abnormal phenotypes. | Fang Hu Liao Sun | 2019 | World Journal of Clinical Cases2019，7，20： | 2 |
| 4 | A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum显示文摘Background:Brachydactyly,a developmental disorder,refers to shortening of hands/feet due to small or missing metacarpals/ metatarsals and/or phalanges.Isolated brachydactyly type E (BDE),characterized by shortened metacarpals and/or metatarsals,consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations.BDE is often accompanied by other anomalies that are parts of many congenital syndromes.In this study,we investigated a Chinese family presented with BDE combined with pectus carinatum and short stature.Methods:A four-generation Chinese family was recruited in June 2016.After informed consent was obtained,venous blood was collected,and genomic DNA was extracted by standard procedures.Whole-exome sequencing was performed to screen pathogenic mutation,array comparative genomic hybridization (Array-CGH) analysis was used to analyze copy number variations,and quantitative real-time polymerase chain reaction (PCR),stride over breakpoint PCR (gap-PCR),and Sanger sequencing were performed to confirm the candidate variation.Results:A 3.06-Mb deletion (chr12:25473650-28536747) was identified and segregated with the phenotype in this family.The deletion region encompasses 23 annotated genes,one of which is PTHLH which has been reported to be causative to the BDE.PTHLH is an important regulator of endochondral bone development.The affected individuals showed bilateral,severe,and generalized brachydactyly with short stature,pectus carinatum,and prematurely fusion of epiphyses.The feature of pectus carinatum has not been described in the PTHLH-related BDE patients previously.Conclusions:The haploinsufficiency of PTHLH might be responsible for the disease in this family.This study has expanded the knowledge on the phenotypic presentation of PTHLH variation. | Jia Huang Hong-Yan Liu Rong-Rong Wang Hai Xiao Dong Wu Tao Li Ying-Hai Jiang Xue Zhang | 2019 | Chinese Medical Journal2019，，14： | 1 |
| 5 | MEASUREMENTS OF URINARY HUMAN GROWTH HORMONE IN SUBJECTS WITH NORMAL AND ABNORMAL GROWTH:A CRITICAL OF ITS POTENTIAL CLINICAL UTILITY显示文摘MEASUREMENTSOFURINARYHUMANGROWTHHORMONEINSUBJECTSWITHNORMALANDABNORMALGROWTH:ACRITICALOFITSPOTENTIALCLINICALUTILITYChengYouho... | 程有 王德芬 曾畿生 黄为群 汪恩壁 郭礼和 | 1994 | Medical Bulletin of Shanghai Jiaotong University1994，17，1： | 0 |
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