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Late Diagnosis of Turner Syndrome in Adulthood;a Case Study from the endocrinology-diabetology Nutrition Department of the National Hospital of Pikine Senegal

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Open Journal of Endocrine and Metabolic Diseases 2024年第5期14卷 115-122页

作者： Nafy Ndiaye Yakham Mohamed Leye Ngone Diaba Diack Mamadou Ba Bibatou Abdoulaye Leye Abdou Aziz Diouf Alassane Diouf Jean Pascal Demba Diop Internal Medicine/endocrinology-diabetology Department Teaching Hospital of Pikine Cheikh Anta Diop University Dakar Senegal Department of Gynaecology-Obstetric Teaching Hospital of Pikine Cheikh Anta Diop University Dakar Senegal Department of Human Genetic Faculty of Medicine Pharmacy and Odontology Cheikh Anta Diop University Dakar Senegal

Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbidities

关键词： Turner Syndrome Primary Amenorrhea Adult Pikine

Practice of Glycemic Self-Monitoring in Diabetic Patients Followed at the endocrinology Department of Donka University Hospital in Guinea

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Open Journal of Endocrine and Metabolic Diseases 2024年第2期14卷 33-38页

作者： Mamadou Dian Mamoudou Diallo Mamadou Mansour Diallo Mamadou Chérif Diallo Alpha Mamadou Diallo Kadija Dieng Abdoul Mazid Diallo Mody Abdoulaye Barry Kadidiatou Bah El’Hadj Zainoul Bah Mamadou Alpha Diallo Ibrahima Condé Ousmane Kourouma Amadou Kaké diabetology unit Labe Regional Hospital Labé Guinea Faculty of Health Sciences and Techniques Gamal Abdel Nasser University of Conakry Conakry Guinea endocrinology and diabetology Department of Donka University Hospital Conakry Guinea Pediatrics Department of Donka University Hospital Conakry Guinea

Diabetes is a chronic pathology whose evolution is marked by micro and macroangiopathic complications. Optimal management can prevent the onset of complications and improve patients’ quality of life. Objectives: To determine the frequency of self-monitoring of blood glucose and to describe the errors found during self-monitoring in diabetic patients followed at the endocrinology Department of Donka University Hospital in Guinea. Materials and methods: Descriptive cross-sectional study carried out between August and September 2020 involving diabetic patients followed up at the endocrinology and diabetology Department of the Donka National Hospital, CHU Conakry. Results: A total of 301 patients were enrolled, with an average age of 44.24 ± 21.01 years. 64.12% were female. Type 2 diabetes predominated in 64% of cases. The mean duration of diabetes was 6.14 ± 4.67 years, and 75.08% of patients lived in urban areas. Patients were on insulin in 36.21% of cases, insulin and biguanides (26.25%), hypoglycemic sulfonamide and biguanides (19.27%) and biguanides in 18.27% of cases. The frequency of self-monitoring of blood glucose was 43%, and 38% of patients made errors, notably reusing lancets (60%), not checking the expiration date (55.65%) and not washing their hands (48%). Conclusion: This study shows that self-monitoring of blood glucose is not performed by the majority of patients. Numerous errors were identified during blood glucose testing. Continued therapeutic education on the use of blood glucose meters will help empower patients and improve their quality of life.

关键词： Self-Monitoring of Blood Glucose Diabetes Conakry University Hospital

Micropenis Associated or Not with Cryptorchidism in the endocrinology Department of Yopougon University Hospital in Ivory Coast: Epidemiological, Clinical, Paraclinical and Therapeutic Aspects

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Open Journal of Endocrine and Metabolic Diseases 2024年第3期14卷 75-85页

作者： Adélaïde Hue Kossi Kodjo Michèle Fotso Jacko Abodo Department of endocrinology diabetology at Yopougon University Hospital Abidjan Ivory Coast Internal Medicine and endocrinology Department of Sylvanus Olympio University Hospital Lomé Togo

Background: Congenital malformations such as micropenis and cryptorchidism do not have immediate dramatic consequences. However, the diagnosis is often unknown at birth, and therefore late. In Ivory Coast, there are few studies on cryptorchidism and micropenis. We conducted this study to identify the epidemiological, clinical, etiological and therapeutic characteristics of the micropenis associated or not with cryptorchidism at Yopougon University Hospital. Methods: We conducted a retrospective descriptive study in the Department of endocrinology-diabetology of the Yopougon University Hospital carried out over 13 years from January 2005 to December 2018. All patients were included regardless of the presence of a micropenis associated or not with cryptorchidism in the clinical or paraclinical examination. Results: A total of 14 micropenis were reported associated in 6 cases with cryptorchidism. It was unilateral cryptorchidism in 4 patients or 66.66% of cases. The average age of affected patients was 21.32 years with extremes ranging from 10 months to 48 years. The reason for consultation was micropenis in 12 out of 14 cases or 85.75%. The associated signs apart from cryptorchidism were obesity in 42.86% of cases, gynecomastia in 35.71% of cases. The aetiology was dominated by idiopathic causes. Treatment with testosterone enanthate was more effective in pre-pubertal children than in adults. Conclusion: The diagnosis of micropenis associated or not with cryptorchidism is late because of the frustrations, taboos and psycho-social states that it causes. However, drug treatment is effective when treatment is started early.

关键词： Micropenis Cryptorchidism Hospital Environment Ivory Coast

Diabetes and pulmonary infection:how hyperglycaemia shapes the immune system

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Signal Transduction and Targeted Therapy 2024年第4期9卷 1245-1246页

作者： Christian Herder Michael Roden Nicolas Venteclef Institute for Clinical diabetology German Diabetes CenterLeibniz Center for Diabetes Research at Heinrich Heine University Düsseldorf40225DüsseldorfGermany German Center for Diabetes Research(DZD) Partner Düsseldorf85764München-NeuherbergGermany Department of endocrinology and diabetology Medical Faculty and University Hospital DüsseldorfHeinrich Heine University Düsseldorf40225DüsseldorfGermany Institut Necker-Enfants Malades(INEM) UniversitéParis CitéINSERM UMR-S1151CNRS UMR-S8253ParisFrance

In a recent study published in Nature,Nobs and colleagues aimed to identify novel mechanisms that may explain why diabetes is associated with an increased susceptibility to viral respiratory infections.Their analyses revealed a central role of lung dendritic cells(DC)which exhibited several functional defects induced by hyperglycaemia and consequently result in impaired antiviral immune responses.

关键词： impaired lung respiratory

Diabetes Screening and Cardiovascular Risk in Tuberculosis Patients in Conakry and Surrounding Towns

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Open Journal of Endocrine and Metabolic Diseases 2024年第1期14卷 7-13页

作者： Mamadou Chérif Diallo Mamadou Dian Mamoudou Diallo Mody Abdoulaye Barry Kadija Dieng Alpha Mamadou Diallo Mamadou Mansour Diallo Oumou Diallo Amadou Kaké Gamal Abdel Nasser University of Conakry Conakry Guinea endocrinology-diabetology Department of Donka University Hospital Conakry Guinea Foundation for The Fight against Diabetes and Non-Communicable Diseases Conakry Guinea

Objective: To determine the prevalence of diabetes and the level of cardiovascular risk in tuberculosis patients treated in Conakry and surrounding towns. Method: This was a cross-sectional study carried out at tuberculosis treatment centers in Conakry and surrounding towns (Coyah and Dubréka) on World TB Day, November 14, 2022, among 350 tuberculosis patients. We determined the proportion of TB patients with diabetes and high hyperglycemia. We determined the Chi-square to identify the factors associated with the occurrence of diabetes in tuberculosis patients, and a significance threshold with p Results: The average age of participants was 33.5 ± 14.5 years, and they were predominantly male (59.7%). The majority of participants lived in Conakry (96.3%). 5.7% were known diabetics and 4.6% were known hypertensives. We found a prevalence of diabetes of 9.4%. Among diabetics, 39% were diabetes discoveries. 30% were hypertensive or had high blood pressure. Of these hypertensive patients, 26.4% were unrecognized hypertensives. Age and hypertension were statistically significantly associated with the onset of diabetes in tuberculosis patients. Medium, high and very high levels of cardiovascular risk were present in 23.4%, 8.9% and 3.4% respectively. Conclusion: Diabetes is common in tuberculosis patients. Cardiovascular risk factors, notably hypertension and cardiovascular risk level, are frequently associated with tuberculosis. Tuberculosis patients with cardiovascular risk factors should be screened for diabetes.

关键词： Screening Diabetes Tuberculosis Cardiovascular Risk Conakry

Precocious Puberty in a 5-Year-Old Girl with a Giant Hypothalamic Hamartoma Discovered Perinatally: Case Report

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Open Journal of Endocrine and Metabolic Diseases 2024年第4期14卷 101-106页

作者： Ghita Bourkadi Sanae Habibi Sana Abourazzak Moustapha Hida Department of endocrinology Diabetology Metabolic Diseases and Nutrition Hassan II University Hospital Fez Morocco Department of Pediatrics Hassan II University Hospital Fez Morocco Faculty of Medicine and Pharmacy Sidi Mohamed Ben Abdellah University Fez Morocoo

Background: Hypothalamic hamartoma is a rare non-neoplastic lesion, typically identified in early childhood during investigations for precocious puberty and/or gelastic seizures. However, cases of diagnosis even earlier or during fetal development have been documented. Case Presentation: A newborn girl was diagnosed with hydrocephalus during pregnancy. An MRI revealed a large oval hypothalamic process, which suggested a hypothalamic hamartoma. At the age of 2, she experienced alternating crying and laughing seizures, followed by a decrease in visual acuity. Due to involvement of the optic pathways, surgery was not performed and she underwent antiepileptic medicines and gamma knife radiotherapy. At the age of 5 years and 3 months, she presented with breast development and laboratory tests confirmed central precocious puberty. Quarterly injections of GnRH agonists have since been administered with favorable results. Conclusion: Early-diagnosed hypothalamic hamartomas require close monitoring, by an experienced multidisciplinary, to promptly detect and treat potential complications, especially precocious puberty, and prevent any undesirable impact on final height.

关键词： Perinatally-Hypothalamic Hamartoma-Giant-Precocious Puberty

Large-scale loss-of-function perturbations reveal a comprehensive epigenetic regulatory network in breast cancer

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Cancer Biology & Medicine 2024年第1期21卷 83-103页

作者： Yumei Wang Haiyan Wang Wei Shao Yuhui Chen Yu Gui Chao Hu Xiaohong Yi Lijun Huang Shasha Li Dong Wang School of Basic Medical Sciences State Key Laboratory of Southwestern Chinese Medicine ResourcesChengdu University of Traditional Chinese MedicineChengdu 611137China Department of Pathology School of MedicineQinghai UniversityXining 810001China Omics Biosciences Inc Beijing 100871China Laboratory of Integrative Medicine Clinical Research Center for BreastState Key Laboratory of BiotherapyWest China HospitalSichuan University and Collaborative Innovation CenterChengdu 610041China State Key Laboratory of Southwestern Chinese Medicine Resources School of PharmacyChengdu University of Traditional Chinese MedicineChengdu 611137China Department of endocrinology and Metabolism Guangdong Provincial Key Laboratory of Diabetology&Guangzhou Municipal Key Laboratory of Mechanistic and Translational Obesity ResearchMedical Center for Comprehensive Weight ControlThe Third Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510630China

Objective:Epigenetic abnormalities have a critical role in breast cancer by regulating gene expression;however,the intricate interrelationships and key roles of approximately 400 epigenetic regulators in breast cancer remain elusive.It is important to decipher the comprehensive epigenetic regulatory network in breast cancer cells to identify master epigenetic regulators and potential therapeutic targets.Methods:We employed high-throughput sequencing-based high-throughput screening(HTS^(2))to effectively detect changes in the expression of 2,986 genes following the knockdown of 400 epigenetic regulators.Then,bioinformatics analysis tools were used for the resulting gene expression signatures to investigate the epigenetic regulations in breast cancer.Results:Utilizing these gene expression signatures,we classified the epigenetic regulators into five distinct clusters,each characterized by specific functions.We discovered functional similarities between BAZ2B and SETMAR,as well as CLOCK and CBX3.Moreover,we observed that CLOCK functions in a manner opposite to that of HDAC8 in downstream gene regulation.Notably,we constructed an epigenetic regulatory network based on the gene expression signatures,which revealed 8 distinct modules and identified 10 master epigenetic regulators in breast cancer.Conclusions:Our work deciphered the extensive regulation among hundreds of epigenetic regulators.The identification of 10 master epigenetic regulators offers promising therapeutic targets for breast cancer treatment.

关键词： Epigenetic regulators breast cancer regulatory network HTS^(2)

Superior Mesenteric Artery Syndrome, a Rare Complication of Severe Malnutrition: Two Cases from a Subsaharian endocrinology Department

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Open Journal of Endocrine and Metabolic Diseases 2024年第4期14卷 87-93页

作者： Nafy Ndiaye Ngone Diaba Diack Yakham Mohamed Leye Sokhna Awa Balla Sall Moussa Gueye Mouhamed Fawaz Mouhamadou Moustapha Ndong Abdoulaye Leye Department of Internal Medecine and endocrinology Teaching Hospital of Pikine Dakar Senegal

Introduction: Superior mesenteric artery syndrome (SMAS), a rare diagnosis due to compression of the third duodenum between the superior mesenteric artery (SMA) and the aorta resulting in bowel obstruction, may lead to severe malnutrition. We report two cases of patients hospitalised in the Internal Medicine, endocrinology, diabetology, and Nutrition Department of the National Hospital Center (NHC) of Pikine. Observations: Patient 1: A 35-year-old female was referred for an aetiological diagnosis due to a rapid weight loss of 15 kilograms in one month, accompanied by persistent vomiting, following an appendectomy performed a month before admission. Upon clinical examination, she presented severe malnutrition (Buzby index of 76%), early post-prandial chronic vomiting, and a poor general condition. An abdominal CT scan revealed aortomesenteric clamp syndrome (AMCS) with an angulation between the aorta and the SMA of 13˚. The underlying cause in this patient was severe malnutrition. Fortunately, her condition improved with medical treatment. Patient 2: We report the case of a 30-year-old female hospitalized due to unusual weight-bearing post-prandial epigastric pain and intermittent vomiting over the past six months. Upon physical examination at admission, she exhibited severe malnutrition with a body mass index (BMI) of 14 kg/m2, a Buzby index of 71%, trophic disorders, and a stage IV general condition assessment according to the World Health Organization (WHO). An abdominal CT scan revealed AMCS with an angle between the aorta and the SMA of 22˚ and an aortomesenteric space of 4 mm. The outcome was poor with medical treatment failure and, unfortunately, the patient died before surgery. Conclusion: SMAS is rarely evoked in clinical practice despite the presence of contributing factors and suggestive clinical signs. The prognosis depends on management time.

关键词： Superior Mesenteric Artery Syndrome Malnutrition Pikine

Osteosarcopenia in autoimmune cholestatic liver diseases:Causes,management,and challenges

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World Journal of Gastroenterology 2022年第14期28卷 1430-1443页

作者： Nicola Pugliese Ivan Arcari Alessio Aghemo Andrea G Lania Ana Lleo Gherardo Mazziotti Department of Biomedical Sciences Humanitas UniversityPieve Emanuele 20090MilanItaly Division of Internal Medicine and Hepatology Department of GastroenterologyIRCCS Humanitas Research HospitalRozzano 20089MIItaly Department of endocrinology Diabetology and Medical Andrology UnitIRCCS Humanitas Research HospitalRozzano 20089MIItaly

Primary biliary cholangitis and primary sclerosing cholangitis(PSC)are the most common cholestatic liver diseases(CLD)in adults and are both characterized by an immune pathogenesis.While primary biliary cholangitis is a model autoimmune disease,with over 90%of patients presenting very specific autoantibodies against mitochondrial antigens,PSC is considered an immune mediated disease.Osteoporosis is the most common bone disease in CLD,resulting in frequent fractures and leading to significant morbidity.Further,sarcopenia is emerging as a frequent complication of chronic liver diseases with a significant prognostic impact and severe implications on the quality of life of patients.The mechanisms underlying osteoporosis and sarcopenia in CLD are still largely unknown and the association between these clinical conditions remains to be dissected.Although timely diagnosis,prevention,and management of osteosarcopenia are crucial to limit the consequences,there are no specific guidelines for management of osteoporosis and sarcopenia in patients with CLD.International guidelines recommend screening for bone disease at the time of diagnosis of CLD.However,the optimal monitoring strategies and treatments have not been defined yet and vary among centers.We herein aim to comprehensively outline the pathogenic mechanisms and clinical implications of osteosarcopenia in CLD,and to summarize expert recommendations for appropriate diagnostic and therapeutic approaches.

关键词： Cholestatic liver diseases Primary biliary cholangitis Primary sclerosing cholangitis Osteoporosis Sarcopenia