ABSTRACT
Objective:To improve clinicians' understanding of congenital nephrogenital diabetes insipidus (CNDI) and to reduce missed and misdiagnosis. Methords Based on the literature, the clinical data and gene mutation of 2 patients with CNDI who were admitted to the Department of Endocrinology and Metabolism of the First Affiliated Hospital of Henan University of Science and Technology on July 30, 2020 were analyzed retrospectively. Results:(1) The presentee, 4 years old, had irritable thirst, polydipsia and polyuria for more than 3 years. The sister, 2.5 years old, had irritable thirst, polydipsia and polyuria for more than 2 years. The clinical diagnosis was “CNDI”, and the symptoms improved after treatment with hydrochlorothiazide. (2) The genetic test revealed that the congenital nephrogenic uremia and her sister had a heterozygous mutation of c.170A>C (p.Q57P) and c.211G>A (p.Vl71M) in the aquaporin-2 gene, and the mother carried the AQP2 gene. c.170A>C(p.Q57P) mutation.Conclusion:CNDI is a rare disease. Early diagnosis and treatment can improve the prognosis of patients to the greatest extent, and prenatal diagnosis can guide eugenics.
ABSTRACT
We report a case of a female teenage with monogenic diabetes mellitus caused by glucokinase regulator (GCKR) gene mutation who presented with diabetic ketosis and misdiagnosed as type 1 diabetes. The patient was treated with insulin for 3 years since diagnosis. The islet function was well preserved, but polycystic ovary syndrome was developed. Whole-exome gene sequencing revealed a GCKR gene c. 69delG heterozygous mutation. After molecular diagnosis, the insulin dosage was gradually reduced to full cessation, and only metformin sustained-release tablets were taken to control blood glucose. It is necessary to regular evaluate islet function of patient with type 1 diabetes, and genetic test is of significance for accurate diagnosis and treatment.
ABSTRACT
One case of 46, XY partial gonadal dysgenesis due to a congenital defect of DEAH-box RNA helicase 37(DHX37) was reported. The clinical and genetic data of a boy who was admitted to the Department of Endocrinology and Metabolism, the First Affiliated Hospital of Henan University of Science and Technology due to ambiguous external genitalia in September 2020 were collected and analyzed. This 3-month-old male patient showed a micropenis, bilateral cryptorchidism, 46, XY karyotype, a decrease in testosterone, anti-Müllerian hormone, inhibin B, an increase in follicle stimulating hormone. Testis biopsy indicated gonadal dysgenesis. The proband harbored a de novo heterozygous mutation in the DHX37 gene c. 923G>A(p.Arg308Gln). DHX37 variants need to be considered for 46, XY gonadal dysgenesis.
ABSTRACT
The impairment of islets β cell by autoimmune response is an important cause of type 1 diabetes mellitus (T1DM). Some monogenic autoimmune syndromes could induce T1DM in difference chance, which are important disease models to deeply understand autoimmunity and T1DM. This article reviews the diagnosis, treatment and genetic detection of eight known single gene autoimmune syndromes associated with T1DM, arming to expand the diagnosis and treatment of T1DM.
ABSTRACT
Micropenis is an objective diagnosis based on accurate measurement of the length of the penis. Micropenis can be caused by many factors, including the structure of the hypothalamic-pituitary-gonadal axis or hormone defects. Therefore, examination of the endocrine system is extremely important for the diagnosis of the etiology. Once the diagnosis is confirmed, a multidisciplinary team of endocrinologists, geneticists, pediatricians, pediatric surgeons, and urologists are required to jointly develop individualized treatment plans. This article reviews the etiology, diagnosis and treatment of micropenis, aiming to raise awareness and concern about micropenis.
ABSTRACT
Maturity-onset diabetes of the young (MODY)is a heterogeneous monogenic diabetes, in which MODY1, MODY2, and MODY3 are the most common subtypes. In recent years, new hypoglycemic drugs such as glucagon-like peptide-1 receptor agonists (GLP-1RA), dipeptidyl peptidase-4 inhibitors (DPP-4i), sodium-glucose co-transporter 2 inhibitors (SGLT2i), and glucokinase activators (GKA)have made good progress in the treatment of diabetes. Based on the latest basic and clinical evidence, the article reviews the pathogenesis, clinical features, diagnosis and treatment progress of new hypoglycemic drugs of the above three types of MODY, aiming to develop safer and more effective new ways for the diagnosis and treatment of MODY.
ABSTRACT
Objective:To investigate the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma by a pedigree study of this disease.Methods:A family of cerebral cavernous hemangioma who was admitted to the Department of Neurology of the First Affiliated Hospital of Henan University of Science and Technology in April 2019 was diagnosed as cerebral cavernous hemangioma type 1 based on clinical manifestations and head magnetic resonance imaging (MRI), diffusion weighted imaging and susceptibility weighted imaging screening. According to Zabramski classification criteria, the family′s clinical data were collected and genes were sequenced.Results:A 58-year-old female proband had dizziness and headache as the main symptoms, her daughter and son had no clinical symptoms, and her granddaughter had clinical manifestations of cerebral hemorrhage and seizures. The proband and her family members showed multiple cavernous hemangioma on cranial MRI,and the p.L436fs mutation in the KRIT1 gene of familial cerebral cavernous malformation type 1 was confirmed through genetic examination, which was consistent with the Zabramski typing results based on head MRI. The mutation site of the familial spongiform malformation type 1 pathogenic gene was found to be p.L436fs in KRIT1 gene, which has not been reported in familial cerebral cavernous hemangioma type 1 until now.Conclusion:A new p.L436fs mutation of KRIT1 gene was found in familial cerebral cavernous malformation type 1, which expands understanding of the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma.
ABSTRACT
This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis. A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital. Clinical data and family history were collected. Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c. 194+ 2T>C, which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.
ABSTRACT
Objective:To analyze the clinical characteristics and gene detection methods of pseudohypertrophic muscular dystrophy, and to provide evidence for gene diagnosis and genetic counseling.Methods:Ten patients with pseudohypertrophic muscular dystrophy diagnosed clinically in the First Affiliated Hospital of Henan University of Science and Technology from March 2018 to March 2019 were selected. The clinical features were analyzed and multiplex ligation probe amplification technique (MLPA) was detected, and exon sequencing was performed in some patients.Results:Ten patients with clinical diagnosis were diagnosed as pseudohypertrophic muscular dystrophy in 9 cases and limb band muscular atrophy in 1 case. The ratio of male to female was 8∶1 in 9 cases. Exon region large deletion of Duchenne muscular dystrophy (DMD) gene was found in 6 cases, and point new mutation in 3 cases. The three possible new mutations of DMD gene were c. 10222delA、c.5697dupA、c.676_678del.Conclusions:Patients with typical symptoms but inconsistent with X-linked recessive inheritance still need DMD genetic detecting; patients with negative MLPA testing need full exon sequencing; patients with mental retardation should pay attention to avoid misdiagnosis.
ABSTRACT
Objective@#This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease.@*Methods@#Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed.@*Results@#There were 4 females and 1 male, with low calcium, high phosphorus and high PTH serum concentrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) detection while gene sequencing result was negative.@*Conclusion@#MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.
ABSTRACT
Objective This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease. Methods Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed. Results There were 4 females and 1 male, with low calcium, high phosphorus and high PTH seran con centrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There wer was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification ( MS-MLPA ) detection while gene sequeming result was negative. Conclusion MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.
ABSTRACT
Objective To discuss the effect under the arthroscope surgery and postoperative treat osteoarthritis with rehabilitation training.Methods 34 cases of osteoarthritis patients treated with the arthroscopy detectors were randomly divided into two groups:the therapeutic group(17 cases)and the control group(17 cases).The therapeutic group was treated with arthroscope surgery and rehabilitation training.The control group was treated only with arthroscopy surgery.All patients were followed up for 90 days.The postoperative pain,range of motion and joint function of the two groups were compared.Results The postoperative pain range of motion and joint function of the therapeutic group was significantly better than the control group(t=17.6,6.4,7.6,P＜0.05).Conclusion Rehabilitation training could relieve the postoperative pain and range of motion,improve the function of knee joint and increase the effect of clinical efficacy in the arthroscopic surgery of knee's under the osteoarthritis patients.