Predictive value of transabdominal pelvic ultrasonography for the diagnosis of central precocious puberty: A single-center observational retrospective study.

This single-center, observational, retrospective study aimed to evaluate the diagnostic accuracy of pelvic ultrasonographic parameters for detecting central precocious puberty (CPP) in a cohort of female pediatric patients undergoing gonadotropin stimulation tests. The study population consisted of 47 female patients with a suspicion of CPP. Thirty four out of 47 patients (72.34%) were subsequently diagnosed with CPP based on the current laboratory diagnostic criteria (LH peak > 5 IU/L). The ultrasonography results of 39 out of 47 patients (82.97%) were categorized as pubertal, while 31 out of 34 participants (91.17%) in the CPP group exhibited pubertal ultrasonography features. In 13 out of 47 girls (27.65%), a CPP diagnosis was ruled out; however, among these 13 patients, eight exhibited pubertal ultrasonography features suspicious of CPP. We observed a robust concordance between the GnRH test results indicative of pubertal activation and the presence of pubertal pelvic ultrasonographic features in 31 out of 34 children (91.17%). A significant correlation was found between ovarian volume and basal LH and LH/ FSH ratio, and also for basal LH, LH peak, LH/FSH ratio and peak LH/FSH ratio (p = 0.026, p = 0.011, p = 0.031, p = 0.004, respectively). Pelvic ultrasonography had a sensitivity of 91.17% and a specificity of 38.46% in differentiating CPP from premature thelarche.

Multiple endocrine neoplasia type 2B (MEN2B) diagnosis: a case report.

Background: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant syndrome characterized by medullary carcinoma of the early thyroid, pheochromocytoma, and non-endocrine manifestations, such as marfanoid habits and other skeletal abnormalities as well as mucosal neuromas and ganglioneuromatosis of the gastrointestinal tract. Case Description: A 10-year-old male began follow-up at our service at 3 years of age through pediatric gastroenterology due to intestinal constipation. The mother also reported that the child had painless lesions on the tip of the tongue since birth with progressive worsening. The patient simultaneously began follow-up with pediatric endocrinology due to low gains in weight and height, between which only isolated low weight was found, and the onset of follow-up with the pediatric neurology team due to longstanding headache combined with vomiting, photophobia, and phonophobia as well as a specific reading and writing disorder. The patient was sent to clinical genetics. The child's karyotype was 46, XY (normal). Through a physical examination, the pediatric neurology team identified joint hypermobility, important muscle hypotrophy, gingival hypertrophy, and lipodystrophy. The patient was sent to neurogenetics, initiating a set of general laboratory exams for the investigation of the lipodystrophy and a panel of exams for lipodystrophy, neuropathy, and muscle hypotrophy as well as electroneuromyography. MEN2B due to genetic mutation was confirmed and the patient was sent to the pediatric endocrinology clinic for follow-up. Currently 10 years of age and again with the pediatric endocrinology team for the diagnosis of MEN2B, the investigation of pheochromocytoma and medullary thyroid cancer was initiated. Conclusions: An additional mutation occurs in most cases of MEN2B. The diagnosis is only established when the child or, in most cases, adolescent presents with medullary thyroid cancer in an advanced and even metastatic stage. However, non-endocrine manifestations, can lead to an early diagnosis and timely intervention. The diagnosis of MEN2B is made with the confirmation of the autosomal dominant genetic mutation or a mutation of the RET gene. In the absence of these mutations, the majority of clinical manifestations should be present.

Which obstetrics-gynecology residency programs are training future reproductive endocrinology and infertility fellows? An observational study.

Objective: To identify where reproductive endocrinology and infertility (REI) fellows trained for residency. Design: Observational, cross-sectional study. Setting: Not applicable. Subjects: Reproductive endocrinology and infertility fellows. Interventions: Not applicable. Main Outcome Measures: Percentage of fellows who completed residency training at an institution with an REI fellowship program. Results: A total of 289 fellows were identified among the graduating fellowship classes from 2023-2027. Of those fellows, 69.9% completed residency at an institution that had an associated REI fellowship program, and 19.7% remained at the same institution for residency and fellowship. In the last 5 years, 34.4% of obstetrics and gynecology residency programs have had at least 1 resident enter REI fellowship. Conclusions: Most matriculated REI fellow physicians train at residency programs that have an associated REI fellowship program.

Prevalence of and factors associated with pre-diabetes among adolescents in Eastern Sudan: a community-based cross-sectional study.

OBJECTIVES: There is an increasing trend of pre-diabetes and diabetes mellitus (DM) among adolescents, and sub-Saharan Africa is no exception. However, few published data on pre-diabetes among adolescents in Sudan exist. We aimed to investigate the prevalence of and factors associated with pre-diabetes among adolescents in Eastern Sudan. DESIGN: A community-based cross-sectional study was conducted from August to October 2023. SETTINGS: This community-based study was conducted in Gadarif city, the capital of Gadarif state, Eastern Sudan. PARTICIPANTS: Adolescents (within the ages of 10-19 years). MAIN OUTCOME MEASURES: A questionnaire was used to collect socio-demographic information. Anthropometric and glycated haemoglobin (HbA1c) measurements were performed in accordance with standard procedures. Multivariate logistic regression analysis was performed. RESULTS: Of the 387 enrolled adolescents, 207 (53.5%) were female and 180 (46.5%) were male. The median (IQR) age was 14.0 (12.0-16.0) years. 39.5% of the participants' fathers were employed. The median (IQR) HbA1c was 5.5% (5.2%-5.8%). One-third (32.6%) of the adolescents had pre-diabetes or DM. Of the participants, 67.4%, 30.0% and 2.6% had no DM, pre-diabetes or type 2 DM, respectively. In the univariate analysis, the father's employment (OR=1.60, 95% CI=1.03 to 2.50) was associated with increased odds of pre-diabetes; age, sex, parents' education, the mother's occupation, body mass index z-score, cigarette smoking and a family history of DM were not associated with pre-diabetes. In the multivariate analysis, the father's employment (adjusted OR=1.70, 95% CI=1.03 to 2.50) was associated with increased odds of pre-diabetes. CONCLUSION: Pre-diabetes is a significant public health problem among adolescents in Eastern Sudan. The introduction of early screening programmes for pre-diabetes at the community level is recommended to halt the progression of pre-diabetes to DM and to deal with existing DM among adolescents.

Association of socioeconomic and lifestyle factors with prevalence of diabetes in rural southwest China: a structural equation modelling approach.

OBJECTIVES: This study aimed to investigate the prevalence of diabetes using structural equation modelling (SEM) to examine the pathways and associations of socioeconomic and lifestyle factors on diabetes in rural southwest China. DESIGN: Data were collected from a cross-sectional health interview and examination survey among individuals aged ≥35 years in rural southwest China. Fasting blood glucose, blood pressure, height, weight and waist circumference (WC) were measured for each participant. SEM was employed to assess the relationships between demographic characteristics (sex, age and ethnicity), socioeconomic position (SEP; annual household income, education level and access to medical services), lifestyle factors (obesity status (body mass index and WC) and physical inactivity), hypertension, hyperlipidaemia and family history of diabetes. SETTING: This study was conducted in rural Yunnan Province of China. PARTICIPANTS: 7536 individuals aged ≥35 years consented to participate in the study. RESULTS: The overall prevalence of diabetes in the present study was 8.3%. Prevalence did not differ by gender (prevalence for both men and women was 8.3% (p>0.05)). The results of SEM indicated that SEP, age, ethnicity, obesity status and physical inactivity had both significant direct and indirect effects on diabetes, with total effect size of 0.091, 0.149, -0.094, 0.212 and 0.089, respectively (p<0.01). Family history of diabetes (0.128, p<0.01), hypertension (0.135, p<0.01) and hyperlipidaemia (0.137, p<0.01) were directly associated with diabetes. CONCLUSIONS: Socioeconomic and lifestyle factors have both direct and indirect effects on prevalence of diabetes in rural southwest China. Future efforts to implement comprehensive interventions to promote the prevention and control of diabetes should in particular focus on obese individuals.

The efficacy of simulation-based learning versus non-simulation-based learning in endocrinology education: a systematic review and meta-analysis.

BACKGROUND: Simulation-Based Learning (SBL) is increasingly adopted in medical education across various specialties, employing realistic simulations to significantly enhance learning experiences. However, a comprehensive evaluation of its effectiveness specifically in endocrinology has not yet been conducted. The study aims to systematically review and meta-analyze the impact of SBL versus Non-Simulation-Based Learning (NSBL) on knowledge acquisition, skills, satisfaction, and interest in learning among endocrinology trainees. METHODS: This systematic review and meta-analysis adhered to the PRISMA guidelines, searching PubMed, Web of Science, Embase, Cochrane library, China National Knowledge Infrastructure (CNKI), Wanfang Data, Weipu, and Chinese Biomedical Database (CBM) until March 2024. We included randomized controlled trials comparing SBL to NSBL in endocrinology education. The quality evaluation relied on the Cochrane risk-of-bias assessment tool. The main results included evaluations from both theoretical and practical assessments. Additional measures consisted of assessing satisfaction and interest in learning. RESULTS: We identified 22 studies suitable for systematic review and 21 for meta-analysis, involving a total of 2517 participants. SBL greatly enhanced theoretical knowledge [standardized mean difference (SMD) = 1.00, 95% confidence interval (CI): 0.68-1.32, P < 0.00001, I2 = 89%] and practical skills (SMD = 1.56, 95% CI: 1.11-2.01, P < 0.00001, I2 = 93%) compared to NSBL. Additionally, SBL was associated with higher satisfaction and greater interest in learning. No significant publication bias was detected, and sensitivity analysis confirmed the stability of these findings. CONCLUSIONS: SBL significantly enhances knowledge, skills, satisfaction, and interest in learning within endocrinology education compared to NSBL. These findings support the integration of high-quality SBL into endocrinology curricula to improve educational outcomes. Future research should explore the lasting effects of SBL on knowledge retention and clinical practice, as well as to evaluate its cost-effectiveness and compatibility with various educational tools in diverse settings.

Case report: Novel germline c.587delA pathogenic variant in familial multiple endocrine neoplasia type 1.

Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic disease, characterized by co-occurrence of several lesions of the endocrine system. In MEN1, the pathogenic MEN1 gene mutations lead to the Abnormal expression of menin, a critical tumor suppressor protein. We here reported a case of a 14-year-old male with insulinoma and primary hyperparathyroidism. Genetic testing demonstrated a novel heterozygote variant c.587delA of MEN1, resulting in the substitution of the 196th amino acid, changing from glutamic acid to glycine, followed by a frameshift translation of 33 amino acids. An identical variant was identified in the proband's father, who was further diagnosed with hyperparathyroidism. To the best of our knowledge, this is the first report of MEN1 syndrome caused by the c.587delA MEN1 variant. Observations indicated that, despite sharing the same MEN1 gene change, family members exhibited diverse clinical phenotypes. This underscored the presence of genetic anticipation within the familial context.

Spatiotemporally distinct roles of cyclooxygenase-1 and cyclooxygenase-2 at fetomaternal interface in mice.

Embryo implantation is crucial for ensuring a successful pregnancy outcome and subsequent child health. The intrauterine environment during the peri-implantation period shows drastic changes in gene expression and cellular metabolism in response to hormonal stimuli and reciprocal communication with embryos. Here, we performed spatial transcriptomic analysis to elucidate the mechanisms underlying embryo implantation. Transcriptome data revealed that lipid metabolism pathways, especially arachidonic acid-related (AA-related) ones, were enriched in the embryo-receptive luminal epithelia. Cyclooxygenases (COXs), rate-limiting enzymes involved in prostaglandin production by AA, were spatiotemporally regulated in the vicinity of embryos during implantation, but the role of each COX isozyme in the uterus for successful pregnancy was unclear. We established uterine-specific COX2-knockout (uKO) and COX1/uterine COX2-double-KO (COX1/COX2-DKO) mice. COX2 uKO caused deferred implantation with failed trophoblast invasion, resulting in subfertility with reduced pregnancy rates and litter sizes. COX1/COX2 DKO induced complete infertility, owing to abrogated embryo attachment. These results demonstrate that both isozymes have distinct roles during embryo implantation. Spatial transcriptome and lipidome analyses revealed unique profiles of prostaglandin synthesis by each COX isozyme and spatiotemporal expression patterns of downstream receptors throughout the endometrium. Our findings reveal previously unappreciated roles of COXs at the fetomaternal interface to establish early pregnancy.

The gut microbiota and its role in Graves' Disease: a systematic review and meta-analysis.

Emerging research indicates the potential involvement of gut bacteria in the etiology of Graves' Disease (GD). However, the evidence regarding this matter is still conflicting. The primary objective of this investigation was to examine the correlation between gut microbiota and GD. A comprehensive search was conducted of the Cochrane Library, Scopus, Europe PMC, and Medline databases up until August 1, 2023, utilizing a combination of relevant keywords. This review incorporates literature that examined the composition of gut microbiota in patients with GD. We employed random-effect models to analyze the standardized mean difference (SMD) and present the outcomes together with their corresponding 95% confidence intervals (CIs). A total of ten studies were incorporated. The results of our meta-analysis indicated that patients with GD have a reduced alpha diversity of gut microbiota as evidence by a significant reduction of Chao1 (std. mean difference -0.58; 95% CI -0.90, -0.26, p=0.0004; I2 =61%), ACE (std. mean difference -0.64; 95% CI -1.09, -0.18, p=0.006; I2 =77%), and Shannon index (std. mean difference -0.71; 95% CI -1.25, -0.17, p=0.01; I2 =90%) when compared with healthy controls. At the phylum level, the abundance of Firmicutes was reduced in GD patients, while that of Bacteroidetes was increased. This study suggests a notable decrease in the richness and variety of gut microbiota among people diagnosed with GD in comparison with healthy controls.

Beyond Infection: Unmasking the Impact of COVID-19 on Diabetes Emergency Trends.

Introduction The relationship between COVID-19 and diabetes has been demonstrated in many studies. However, it is thought that the psycho-socioeconomic effects of the pandemic led to a worsening of glycemic control and an increase in diabetes-associated clinical emergencies in diabetic patients without a diagnosis of COVID-19. Objectives We aimed to reveal the change in the frequency of diabetes-related clinical emergencies before and during the COVID-19 pandemic. Patients and methods The data of the patients requiring endocrinology consultations in Manisa Celal Bayar University Faculty of Medicine Emergency Service between March 2018 and March 2022 were included. In total, 269 consultations were analyzed. The March 2018 - March 2020 period was considered as pre-COVID, and March 2020 - March 2022 as the COVID-19 period. The frequency of diabetes-related conditions between these two periods was compared. Results Compared to the pre-COVID period, there was a significant increase in the frequency of admissions with diabetic ketosis, hyperglycemic hyperosmolar state, hypoglycemia, and hyperglycemia in the COVID-19 period (p=0.022, p=0.037, p=0.044, and p=0.004 respectively). Although an increase was observed in the frequency of diabetic ketoacidosis (DKA) cases, no statistical significance was found. When the mortality data of the patients was evaluated, the total number of deaths was seen to increase significantly in the COVID-19 period (p=0.01). It was observed that the ratio of type 2 diabetes mellitus (DM)/type 1 DM among DKA patients increased significantly in the COVID-19 period (p=0.001). Conclusions It can be concluded that the increasing trend in diabetic emergencies that started even before the pandemic is exacerbated by COVID-19, especially in patients with poor glycemic control.

Have interventions aimed at assisting general practitioners in facilitating earlier diagnosis of type 1 diabetes in children been successful in preventing acute complications? A systematic review.

BACKGROUND: Diabetic ketoacidosis (DKA) is a life-threatening emergency that can result from delayed diagnosis of type 1 diabetes mellitus (T1DM). Three-quarters of Australian children with a new diagnosis of T1DM visit their general practitioner (GP) the week prior to developing DKA, with similar trends observed internationally. OBJECTIVE: To summarise interventions in general practice to reduce diagnostic delay in paediatric T1DM and to evaluate their effectiveness. METHODS: Six databases (Ovid, Web of Science, CINAHL, Evidence-Based Medicine Reviews, Google Scholar and EMBASE) were searched. Any English language, less than 20 years study involving interventions targeting GPs specifically in the prevention of paediatric DKA, was included. Primary outcomes were (a) the number of children presenting to the hospital in DKA following diagnostic delay after a GP visit and (b) DKA rate. The secondary outcome was changes in GPs' behaviour regarding timeliness of referrals. Two reviewers completed title, abstract and full-text review, with conflicts resolved by a third reviewer. ROBINS-I risk of bias was used for appraisal. High heterogeneity among studies rendered meta-analysis unsuitable. Structured tabulation of results was completed for analysis. The date of last search was 2 July 2023. RESULTS: Eight studies were included (three conference abstracts and five peer-reviewed publications.) We identified six intervention types attempting to facilitate timely diagnosis of type 1 diabetes in the general practice setting: direct communication, indirect communication, education sessions, electronic clinical decision support tools, updated referral pathways and provision of glucose and/or ketone monitors. Due to the limited number of peer-reviewed studies identified by this review, we were not able to identify the extent to which these interventions were successful. CONCLUSION: Paucity of information regarding study methodology and high heterogeneity among study design and outcome measures limited our conclusions regarding acceptability, effectiveness and reach. Future studies should include GPs in their design and consider the sustainability of interventions in the long term. PROSPERO REGISTRATION NUMBER: CRD42023412504.

Applying the theoretical domains framework to identify determinants to mental healthcare use among older African Americans with type 2 diabetes: a qualitative study.

OBJECTIVES: There is a paucity of research focused on enhancing access to mental healthcare for older African Americans with type 2 diabetes (T2D), who may be at risk for or living with comorbid depression. This study aims to identify barriers and facilitators to mental healthcare utilisation among this population, guided by the theoretical domains framework (TDF). DESIGN: This qualitative study involved 30 interviews with older African American adults diagnosed with T2D. The interview questions were aligned with TDF domains to capture participant perspectives on barriers and facilitators to mental healthcare use. SETTING: Interviews were conducted via telephone by a licensed clinician trained in social work. Each session lasted 60-90 min and was transcribed and analysed. PARTICIPANTS: The study included 30 African American adults (15 males and 15 females), aged 60 and above, living in an urban area in the Midwest. PRIMARY AND SECONDARY OUTCOMES: The primary outcome was the identification of themes from participant responses, analysed using thematic content techniques and categorised into TDF constructs. Demographic data served as the secondary outcome. RESULTS: Nine key themes were identified, categorised under major TDF domains and constructs. Significant barriers included (1) systemic racism ('knowledge'), (2) normalisation of depressive symptoms ('beliefs about consequences'), (3) perceived stigma ('beliefs about consequences') and 4) costs of medications and healthcare ('environmental context and resources'). Facilitators to seeking mental healthcare included (1) empowerment ('beliefs about capabilities'), (2) perceived benefits of mental health exams ('beliefs about consequences'), (3) positive provider experiences ('reinforcement'), (4) recognition of depressive symptoms as a motivator ('goals') and (5) support networks ('social influences'). CONCLUSION AND IMPLICATIONS: Key findings highlight that fostering positive patient-provider relationships and enhancing self-recognition of depressive symptoms can significantly encourage mental healthcare utilisation among older African Americans with T2D. These findings suggest that future interventions should focus on strengthening these relationships and improving self-awareness to better mental health outcomes.

Ten years trajectories of estimated glomerular filtration rate (eGFR) in a multiethnic cohort of people with type 1 diabetes and preserved renal function.

OBJECTIVES: We aim to evaluate estimated glomerular filtration rate (eGFR) patterns of progression in a multiethnic cohort of people with type I diabetes mellitus and with baseline eGFR ≥45 mL/min/1.73 m2. DESIGN: Observational cohort. SETTING: People with a clinical diagnosis of type 1 diabetes, attending two university hospital-based outpatient diabetes clinics, in South London between 2004 and 2018. PARTICIPANTS: We studied 1495 participants (52% females, 81% white, 12% African-Caribbean and 7% others). PRIMARY AND SECONDARY OUTCOME MEASURES: Clinical measures including weight and height, systolic blood pressure, diastolic blood pressure and laboratory results (such as serum creatinine, urine albumin to creatinine ratio (ACR), HbA1c were collected from electronic health records (EHRs) and eGFR was estimated by the Chronic Kidney Disease-Epidemiology Collaboration. Ethnicity was self-reported. RESULTS: Five predominantly linear patterns/groups of eGFR trajectories were identified. Group I (8.5%) had a fast eGFR decline (>3 mL/min/1.73 m2 year). Group II (23%) stable eGFR, group III (29.8%), groups IV (26.3%) and V (12.4%) have preserved eGFR with no significant fall. Group I had the highest proportion (27.6%) of African-Caribbeans. Significant differences between group I and the other groups were observed in age, gender, HbA1C, systolic and diastolic blood pressure, body mass index, cholesterol and urine ACR, p<0.05 for all. At 10 years of follow-up, 33% of group I had eGFR <30 and 16.5%<15 (mL/min/1.73 m2). CONCLUSIONS: Distinct trajectories of eGFR were observed in people with type 1 diabetes. The group with the highest risk of eGFR decline had a greater proportion of African-Caribbeans compared with others and has higher prevalence of traditional modifiable risk factors for kidney disease.

Endocrine gland size is proportional to its target tissue size.

Endocrine glands secrete hormones into the circulation to target distant tissues and regulate their functions. The qualitative relationship between hormone-secreting organs and their target tissues is well established, but a quantitative approach is currently limited. Quantification is important, as it could allow us to study the endocrine system using engineering concepts of optimality and tradeoffs. In this study, we collected literature data on 24 human hormones secreted from dedicated endocrine cells. We find that the number of endocrine cells secreting a hormone is proportional to the number of its target cells. A single endocrine cell serves approximately 2,000 target cells, a relationship that spans 6 orders of magnitude of cell numbers. This suggests an economic principle of cells working near their maximal capacity, and glands that are no bigger than they need to be.

Looking Beyond Thyroid Malignancy: An Unusual Case of Dyshormonogenetic Goiter in Rural India.

Dyshormonogenetic goiter (DG) is a rare cause of congenital hypothyroidism (CH) occurring due to the lack of enzymes necessary for thyroid hormone synthesis. If left untreated, it impairs hormone production leading to developmental and metabolic complications. Morphologically, it is characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy causing difficulties in diagnosis. Thus, accurate histopathological evaluation is crucial in distinguishing DG from malignancy. We report a case of a 13-year-old female diagnosed with hypothyroidism at the age of six. Over time, she exhibited slow development of a multinodular goiter and began experiencing dyspnea in the supine position. Ultrasonography confirmed an enlarged thyroid gland with solid hypoechoic nodules devoid of calcifications, so a total thyroidectomy was performed. Gross examination revealed that the gland was notably enlarged with a grey-tan nodular appearance with few cystic hemorrhagic areas and had a firm rubbery texture. Microscopy identified microfollicular cells with significant hyperplasia and cytologic atypia along with scant colloid, indicative of DG. Histopathological literature has been essential to prevent overdiagnosis of malignancy. Additionally, the authors suggest that it is crucial to include DG in the differential diagnosis when evaluating potential causes of CH.

Exploring the link: Sturge-Weber syndrome and pituitary macroadenomas: A case report and review.

Sturge-Weber syndrome (SWS) is a rare congenital disorder marked by facial port-wine birthmarks, neurological impairments, and ocular anomalies. Our case report describes a 20-year-old man with SWS who presented with right-sided weakness, slurred speech, and oral dyskinesia. Laboratory studies demonstrated elevated prolactin levels, and imaging confirmed a pituitary macroadenoma. While not well-documented, the association between SWS and pituitary macroadenomas is emerging based on current evidence. The potential link may involve embryological, genetic, or hormonal factors influencing the simultaneous development of these conditions. This case highlights the need for a thorough evaluation in patients with SWS, incorporating both neuroimaging and endocrine assessments to manage associated complications effectively. Further research is necessary to investigate the link between SWS and pituitary tumors. Establishing evidence-based guidelines for the screening and management of these patients will improve outcomes and provide a standardized approach to care.

Recent progress in gene therapy for familial hypercholesterolemia treatment.

Familial hypercholesterolemia (FH) is a genetic disorder that affects 1 in 300 people, leading to high cholesterol levels and significantly increased cardiovascular risk. The limitations of existing FH treatments underscore the need for innovative therapeutics, and gene therapy offers a promising alternative to address FH more effectively. In this review, we survey approved gene therapy drugs first and then delve into the landscape of gene addition, gene inactivation, and gene editing therapies for hypercholesterolemia, highlighting both approved interventions and those in various stages of development. We also discussed recent advancements in gene editing tools that are essential for their application in gene therapy. Safety considerations inherent to gene therapy are also discussed, emphasizing the importance of mitigating potential risks associated with such treatments. Overall, this review highlights the progress and prospects of gene therapies for FH treatments, underscoring their potential to revolutionize the management of this prevalent and challenging condition.

Clinical patterns and treatment outcomes of polycystic ovarian syndrome.

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common chronic endocrine disorder in women with complex and poorly understood etiologies. The present study aimed to describe the clinical features of PCOS in a sample of Syrian women as well as the risk factors, associated comorbid diseases, and patterns and efficacy of treatment. METHODS: The present study is cross-sectional observational study conducted on a sample of Syrian women diagnosed with PCOS, using self-administered questionnaire during the period between December 25, 2023 and January 18, 2024. Overall, 1666 women with PCOS were recruited through online platforms. RESULTS: Higher frequency of PCOS was observed in young women aged 15-25 years (63.1%) and in single ladies (76.5%). The main chief complaints experienced by patients with PCOS were hirsutism (71.25%), irregular menstrual cycle (70.95%), depressed mood (53.9%), acne (49.52%), abdominal obesity (43.88%), alopecia (38.12%), and weight gain (34.57%). The most common risk factors observed in patients with PCOS were lack of physical exercise (76.4%), unhealthy food habits (51.6%), family history (38.5%), and history of taking anabolic steroids (17.2%). Comorbid diseases were found in 11.5% of PCOS patients. These diseases were hypothyroidism (5.7%), hypertension (3.06%), dyslipidemia (1.68%), heart diseases (1.56%), and diabetes mellitus (0.78%). Most patients were treated with oral contraceptive pills (82.11%) or metformin (64.83%). The efficacy of treatment was observed as complete cure in 430 patients (25.8%) and partial response alleviating symptoms in 819 patients (49.2%), while and no benefit was found in 417 patients (25%). CONCLUSIONS: PCOS is associated with widespread dermatological and metabolic aberrations that pose psychological burden on women and increase their risk for having comorbid diseases. Most patients with PCOS do not receive adequate therapy. Understanding the risk factors and clinical features for each patient is essential to choose the proper treatment.

Hormonal and inflammatory responses in prepubertal vs. pubertal male children following an acute free-weight resistance training session.

PURPOSE: Examine the acute hormonal and cytokine responses to free-weight resistance training in trained prepubertal and pubertal male children. METHODS: Prepubertal (n = 21; age 11.4 ± 1.1 years; Tanner I-II) and pubertal male children (n = 20; age 15.8 ± 0.7 years; Tanner III-V) conducted a moderate-intensity free-weight resistance training program to failure with venous blood sampling before (pre), immediately after (post) and during the recovery phase of the program (post-15,-30 min). Growth hormone (GH), insulin-like growth factor-I (IGF-I), cortisol, testosterone, IL-6, and TNF-α were analyzed in serum samples. Biological maturation was assessed according to the stages of the Tanner scale. RESULTS: There was a significant time-by-group interaction in IGF-I response (p = 0.044; η2 = 0.209) and testosterone (p < 0.001; η2 = 0.508), indicating a greater change in the pubertal group compared to the prepubertal group. Both groups significantly increased post-exercise GH levels (p < 0.05). Only the prepuberal group significantly increased levels of IL-6 at all post-exercise time points (p < 0.05). Both groups showed a significant (p < 0.05) increase in TNF-α levels compared to resting levels. CONCLUSION: These data suggest that acute testosterone and IGF-I response following resistance training differ between trained prepubertal and pubertal male children. Moderate-intensity resistance training performed to failure may thus have different effects in trained prepubertal and pubertal male children, which should be considered when giving training advice. TRIAL REGISTRATION: Clinical trials number: NCT05022992.

Effect of zoledronic acid and pamidronate on renal function.

BACKGROUND: There is limited data on the effect bisphosphonates have on renal function and the use of bisphosphonates in patients with baseline renal dysfunction. OBJECTIVE: The purpose of this study was to determine the incidence of acute kidney injury (AKI) in patients after receiving zoledronic acid or pamidronate. METHODS: A retrospective cohort analysis was conducted of patients who received one dose of a bisphosphonate, either zoledronic acid or pamidronate. The primary objective of this study was to determine the incidence of AKI after bisphosphonate administration. Baseline characteristics were compared, and unadjusted analyses of primary and secondary outcomes were completed using Pearson's chi-square or Fisher's exact test for categorical data and Mann-Whitney U test for continuous data. RESULTS: There was no difference found in AKI incidence between zoledronic acid and pamidronate (17.1% vs. 15.0%; p = 1.00). Additionally, there was no difference found in AKI incidence between patients with baseline renal dysfunction and those without, (25.0% vs. 15.0%; p = 0.322). There were no differences observed in either corrected calcium within seven days or serum creatinine (SCr) within 30 days returning to baseline after administration, nor were there differences in fever or hypophosphatemia incidences. CONCLUSION: Bisphosphonates may be used to treat hypercalcemia of malignancy in patients with and without renal dysfunction. AKI may occur post infusion; however, long-term effects on renal function are infrequent when hydrating patients prior to administration and adhering to the manufacturer's recommended infusion rate.