Endocrinological Abnormalities Research Articles

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.

Gaucher disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status. A total of 13 patients confirmed to have GD, 12 non-neuronopathic type and one subacute neuronopathic type, were enrolled in our study. The median treatment duration in the enzyme therapy was 13.33 years (9-26 years). At least one endocrinological abnormality was detected in blood tests of nine patients. Hyperinsulinism was the most common finding although fasting blood glucose levels HgbA1c levels were normal in all patients. Two patients had osteopenia, and osteoporosis was detected in two patients. Low HDL levels were detected in six patients, but HDL levels below 23 mg/dL associated with disease severity have been detected in two patients who have not receiving enzyme replacement therapy. None of patients had thyroidal dysfunction. This study had revealed endocrinological abnormalities in GD patients that have not led any severe morbidity in our patients. However, thyroid hormone abnormalities, insulin resistance, or lipid profile abnormalities may cause unpredictable comorbidities. Endocrinological assessment in GD patients in routine follow-up may prevent possible clinical manifestation in long term as well as can define efficacy of ERT on endocrine abnormalities.

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).

Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, and transient hypocalcemia. It is caused by variants in FAM111A gene. Diagnosis of KCS2 can be challenging because of its similarities to other syndromes, the absence of clear hallmarks and the deficient number of genetically confirmed cases. Here, we aimed to further delineate and summarize the genotype and phenotype of KCS2, in order to get a better understanding of this rare disorder, and promote early diagnosis and intervention. We present clinical and genetic characteristics of eight newly affected individuals with KCS2 from six families, including one family with three individuals found to be a father-to-daughter transmission, adding to the limited literature. Furthermore, we performed a review of genetically confirmed KCS2 cases in PubMed, MEDLINE and CNKI databases. There were six females and two males in our cohort. All the patients presented with short stature (100.0%). Clinical manifestations included ocular defects such as hypermetropia (5/8), dental problems such as defective dentition (3/8) and dental caries (3/8), skeletal and brain anomalies such as delayed closure of anterior fontanelle (6/8), cerebral calcification (3/8), cortical thickening (3/8) and medullary stenosis (4/8) of tubular bones. Endocrinologic abnormalities included hypoparathyroidism (5/8) and hypocalcemia (3/8). One male patient had micropenis and microorchidism. All cases harboured missense variants of FAM111A, and nucleotides c.1706 arose as a mutational hotspot, with seven individuals harbouring a c.1706G>A (p.Arg569His) variant, and one child harbouring a c.1531T>C (p.Tyr511His) variant. Literature review yielded a total of 46 patients from 20 papers. Data analysis showed that short stature, hypoparathyroidism and hypocalcemia, ocular and dental defects, skeletal features including cortical thickening and medullary stenosis of tubular bones, and seizures/spasms were present in more than 70% of the reported KCS2 cases. We provide detailed characteristics of the largest KCS2 group in China and present the first genetically confirmed instance of father-to-daughter transmission of KCS2. Our study confirms that Arg569His is the hot spot variant and summarizes the typical phenotypes of KCS2, which would help early diagnosis and intervention.

Allotriophagy And Allotriodipsia In Endocrinology.

Allotriophagy is defined as food cravings that are different from the expected or the norm. It gives clinical pointers to an underlying diagnosis. We propose a new term, allotriodipsia which suggests a preference for beverages that are different from the norm. Taken together, these two entities may point towards certain endocrinological abnormalities and iatrogenic sequelae. In this communication we highlight the clinical relevance of allotriophagy and allotriodipsia.

A systematic review and future research agenda on detection of polycystic ovary syndrome (PCOS) with computer-aided techniques

Polycystic Ovary Syndrome (PCOS) is among the most prevalent endocrinological abnormalities seen in reproductive female bodies posing serious health hazards. The correctness of interpreting this condition depends heavily on the wide spectrum of associated symptoms and the doctor's expertise, making real-time clinical detection quite challenging. Thus, investigations on computer-aided PCOS detection systems have recently been explored by several researchers worldwide as a potential replacement for manual assessment. This review study's objective is to analyze the relevant research works on computer-assisted methods for automatically identifying PCOS through a systematic literature review (SLR) methodology as well as investigate the research limitations and explore potential future research scopes in this domain. 28 articles have been selected using the PRISMA approach based on a set of inclusion-exclusion criteria for conducting the review. The data synthesis of the selected articles has been conducted using six data exploration themes. As outcomes, the SLR explored the topical association between the studies; their research profiles; objectives; data size, type, and sources; methodologies applied for the detection of PCOS; and lastly the research outcomes along with their evaluation measures and performances. The study also highlights areas for future research directions examining the study gaps to enhance the current efforts for autonomous PCOS identification; such as integrating advanced techniques with the current methods; developing interactive software systems; exploring deep learning and unsupervised machine learning techniques; enhancing datasets and country context; and investigating more unknown factors behind PCOS. Thus, this SLR provides a state-of-the-art paradigm of autonomous PCOS detection which will support significantly efficient clinical assessment, diagnosis and treatment of PCOS.

Role of TLR7 in the pathogenesis of primary Sjögren's syndrome.

Primary Sjögren's syndrome (pSS) is an autoimmune disorder characterised by immune-driven damage to the exocrine glands, leading to diminished salivary and tear production. While the pathogenesis of pSS remains incompletely understood, its clinical presentations vary widely, and no specific treatments are currently available. Toll-like receptor 7 (TLR7) belongs to the Toll-like receptor family and is crucial for the innate immune response, notably in recognising pathogenic patterns. TLR7 is predominantly found in the endoplasmic reticulum (ER) and endosomes, where it identifies single-stranded RNA (ssRNA). Upon ligand binding, TLR7 activates the Myd88-dependent signalling cascade, eliciting an immune response.Dysregulation and variations in TLR7 expression are implicated in several autoimmune disorders. In genetically predisposed individuals, factors such as infections, endocrinological abnormality and metabolic abnormalities can cause TLR7 dysregulation, aggravating pSS symptoms and progression. While studies on TLR7 in pSS are limited, they offer insights into the disease's pathophysiological processes, vital for the treatment and prognosis. This article explores the mechanisms of TLR7 dysregulation, its involvement in pSS pathogenesis, and prospective therapeutic significance.

BMP2 is a potential causative gene for isolated dextrocardia situs solitus

BMP2 (bone morphogenic protein-2) is a member of the TGF-β superfamily and has essential roles in the development of multiple organs, including osteogenesis. Because of its crucial role in organ and skeletal development, Bmp2 null mice is fetal lethal.The recent report has characterized multiple patients with BMP2 haploinsufficiency, describing individuals with BMP2 sequence variants and deletions associated with short stature without endocrinological abnormalities, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease. However, due to a small number of reported patients with BMP2 haploinsufficiency, the genotype and phenotype correlations are not fully understood.We experienced a family of BMP2 haploinsufficiency with a novel frameshift variant NM_001200.4: c.231dup (p.Tyr78Leufs*38) which was predicted to be “pathogenic” by the American College of Genetics and Genomics (ACGM) criteria. In addition to short stature, impaired hearing ability and minor skeletal deformities, the proband exhibited isolated dextrocardia situs solitus without cardiac anomalies and abnormal locations of other visceral organs. Our study would shed light on the crucial role of BMP2 in determining the cardiac axis, and further studies are needed to assemble more cases to elucidate BMP2 role in human heart development.

Understanding the Perspective of Youths on Undergoing Metabolic Monitoring While on Second-Generation Antipsychotics: Challenges, Insight, and Implications.

Introduction: Prescription of second-generation antipsychotics (SGAs) in youths is rapidly increasing globally, despite the potential for significant adverse effects and long-term health consequences. A known adverse reaction resulting from SGAs is metabolic syndrome (MS). Youths exposed to antipsychotics are at higher risk than adults for adverse drug reactions, including adverse events such as MS (with weight gain as the most significant adverse outcome) and other long-term endocrinological abnormalities. This study aimed to explore the experiences of young patients on factors impacting barriers to metabolic monitoring of SGAs and the strategies to address those barriers thereby providing further guidance on policy and service delivery. Methods: Semi-structured interviews were conducted with patients (youths who were prescribed SGAs) who attended Child and Youth Mental Health Services. The interviews focused on barriers to monitoring and strategies to enhance rates of monitoring that could be customized across study sites. Results: Young patients revealed that none of them had any concerns or objections to receiving anthropometric metabolic measurements. However, they seemed concerned to undergo blood tests as part of the metabolic monitoring process. Specifically, youths cited their fear of the needles as barrier to undergo the required blood tests. Youths have also reported that their dislike to healthy foods and exercise being the most common challenge they face while trying to engage in a healthy lifestyle to manage the SGAs resulted weight gain. Conclusion: Prescribers are recommended to actively engage young patients about the expected SGAs-induced adverse effects, the importance of conducting metabolic monitoring, and how to prevent and minimize the expected adverse effects from the start of initiating SGAs. This could be a vital step toward a successful treatment as the insight of youths into the details of the chosen treatment can play a significant role into treatment adherence and recovery.

Pituitary abscess: a case report and systematic review of 488 cases

BackgroundPituitary abscess (PA) is a rare condition and not well understood. We aimed to describe a case and perform a comprehensive systematic review to explore presenting symptoms, radiological findings, endocrine abnormalities and mortality.AimTo identify presenting symptoms, radiological findings, endocrinological abnormalities and predictors of mortality for PA.MethodsWe systematically reviewed the literature to identify all case reports of PA. Data regarding presentation, mortality, radiological findings, endocrinological abnormalities and treatment was extracted.ResultsWe identified 488 patients from 218 articles meeting the inclusion criteria. Mortality was 5.1%, with days to presentation (OR 1.0005, 95% CI 1.0001–1.0008, p < 0.01) being the only identified independent predictor of mortality. Mortality rates have decreased over time, with cases published prior to 2000 having higher mortality rates (OR 6.92, 95% CI 2.80–17.90, p < 0.001). The most common symptom was headache (76.2%), followed by visual field defects (47.3%). Classical signs of infection were only present in 43%. The most common imaging feature on magnetic resonance imaging (MRI) was high T2 and low T1 signal of the pituitary gland with peripheral contrast enhancement. Over half (54.8%) were culture negative, with the most common bacterial organism being staphylococcus aureus (7.8%) and fungal organism being aspergillus (8.8%). The most common endocrine abnormality was hypopituitarism (41.1%), followed by diabetes insipidus (24.8%). Whilst symptoms resolved in most patients, persistent endocrine abnormalities were present in over half of patients (61.0%).ConclusionPA is associated with significant mortality, with delayed presentation increasing risk of mortality. Ongoing endocrinological abnormalities are common. Given the non-specific clinical presentation, the appearance of high T2, low T1 and peripheral contrast enhancement of the pituitary on MRI should prompt consideration of this rare disease.

P-509 Genomic characterization of couples and their embryos/fetuses with idiopathic recurrent pregnancy loss

Abstract Study question To what extent do genomic variants contribute to idiopathic recurrent pregnancy loss (RPL)? Summary answer Pathogenic uniparental disomy, copy number variations, and single nucleotide variants were identified in 18 of 83 couples and their embryos/fetuses with idiopathic RPL. What is known already RPL is defined as the loss of two or more pregnancies before 24 weeks gestation. The etiologies of RPL include antiphospholipid antibody syndrome, and anatomic, endocrinological and chromosomal abnormalities. About 50% of RPL is unexplained and is termed as idiopathic RPL. Chromosomal aberrations and genetic variants have been identified to be associated with idiopathic RPL, demonstrating that genomic factors underlie idiopathic RPL. Study design, size, duration We applied genome sequencing to study genomic variations that causing idiopathic RPL. Couples and their embryos/fetuses were collected and sequenced. Genomic variations from women and men experiencing RPL and their embryos/fetuses were analyzed to fully characterize the genomic contribution to idiopathic RPL. Participants/materials, setting, methods We recruited 83 Chinese couples with idiopathic RPL and collected 249 samples from their embryos/fetuses and peripheral blood. Genomic DNA of those samples were sequenced, and pathogenic chromosomal abnormalities and genetic variants were identified. Main results and the role of chance Generally, pathogenic variants were identified in RPL females, males and embryos/fetuses. One uniparental disomy, 9 copy number variations, and 1 homozygous and 1 de novo single nucleotide variants (SNVs) were identified pathogenic in 12 RPL embryos/fetuses. Five and three pathogenic SNVs were identified in 4 RPL females and 2 RPL males respectively. Many SNVs affect the genes involved in sexual development. In total, 18 of 83 (21.69%) couples with idiopathic RPL could be explained by genomic variation, providing information for clinical treatments. Limitations, reasons for caution The sample size is relatively small, and they are from one medical center. Wider implications of the findings Genomic variations in females, males and their embryos/fetuses can cause RPL, and identification of genetic causes will facilitate further precision intervention. Trial registration number not applicable

Benign Prostatic Hyperplasia in a 13-Year-Old Boy

Benign prostatic hyperplasia (BPH) is most common in men 40 years and above. It rarely occurs in childhood. As a result of the scarcity of cases, the pathogenesis is not clear, and treatment of BPH in this age group is challenging. This report focuses on a 13-year-old patient diagnosed with a histologically confirmed BPH, having presented with a 2-year history of recurrent hematuria and acute urinary retention. Magnetic resonance imaging (MRI) revealed a 287 g prostatic mass, with no signs of malignancy nor metastasis detected. A decision for open suprapubic prostatectomy was made. Postoperative follow-up at 1 year was uneventful. The possible causes of juvenile BPH have been postulated as gonadotropin supplementation for cryptorchidism and human chorionic gonadotropin-containing agent use by the mother during pregnancy. Our case had a history of the right inguinal undescended testis with scrotal orchidopexy done at 11 years of age. However, the patient had no history of human chorionic gonadotropin use, endocrinologic abnormality, or other possible contributing factors. His antenatal history was normal, with no use of human chorionic gonadotropin by the mother. Due to the very few reported cases, there is insufficient data to help understand the pathogenesis of childhood BPH.

Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy.

Fabry disease is an X-linked lysosomal disorder caused by decreased or absent alpha galactosidase enzyme. The enzyme deficiency leads to progressive accumulation of globotriaosylceramide (Gb-3) and its deacetylated form lyso-Gb3 in various tissue lysosomes that results in primarily lysosomal deterioration and subsequently mitochondrial, endothelial, and immunologic dysfunctions. The endocrinological, metabolic, immunological and HLA status of 12 patients were evaluated. A total of 11 patients (91.6 %) had immunologic and/or endocrinologic abnormalities. fT4, anti-TPO, and anti-TG levels were increased in 1, 2, and 2 patients, respectively. Three patients had elevated proinflammatory cytokines. ANA profile, p-ANCA and c-ANCA were positive in 1, 1, and 2 patients, respectively. Tissue transglutaminase antibody was negative in all patients however P5 was diagnosed with Celiac disease at the age of 12 and on gluten free diet. All patients had distinct types of HLA apart from 2 patients with anti-TG and anti-TPO positive and there was no relationship between the HLA types and the autoimmunity biomarkers. FD may have impact on endocrinologic and immunologic abnormalities even in the patients under ERT, therefore prevalence of these abnormalities may be higher in ERT naïve patients. However, apparently, they are less likely to cause clinical symptoms. Certain HLA alleles may contribute to the direct impact of immunological pathogenesis in FD by developing abnormal autoimmune biomarkers. To the best of our knowledge, this is the first study investigating HLA status of FD patients; therefore further studies are needed to elucidate the underlying mechanism of action.

Thyroid, Gonadal and Adrenal Dysfunction in Kidney Transplant Recipients: A Review for the Clinician

While chronic kidney disease-associated mineral and bone disorders (CKD-MBD) prevail in the endocrinological assessment of CKD patients, other endocrine abnormalities are usually overlooked. CKD is associated with significant thyroid, adrenal and gonadal dysfunction, while persistent and de novo endocrinological abnormalities are frequent among kidney transplant recipients (KTR). Low T3 levels prior to transplantation may help identify those at risk for delayed graft function and are often found in KTR. Thyroid surveillance after kidney transplantation should be considered due to structural anomalies that may occur. Despite the rapid recovery of gonadal hormonal secretion after renal transplantation, fertility is not completely restored. Testosterone may improve anemia and general symptoms in KTR with persistent hypogonadism. Female KTR may still experience abnormal uterine bleeding, for which estroprogestative administration may be beneficial. Glucocorticoid administration suppresses the hypothalamic-pituitary–adrenal axis in KTR, leading to metabolic syndrome. Patients should be informed about signs and symptoms of hypoadrenalism that may occur after glucocorticoid withdrawal, prompting adrenal function assessment. Clinicians should be more aware of the endocrine abnormalities experienced by their KTR patients, as these may significantly impact the quality of life. In clinical practice, awareness of the specific endocrine dysfunctions experienced by KTR patients ensures the correct management of these complications in a multidisciplinary team, while avoiding unnecessary treatment.

Elucidating the Effects of the Lipids Regulators Fibrates and Statins on the Health Status of Finfish Species: A Review.

The most documented fibrates are gemfibrozil, clofibrate and bezafibrate, while for statins, the majority of the published literature focuses on atorvastatin and simvastatin. The present work reviews previously published research concerning the effects of these hypocholesterolaemic pharmaceuticals on fish, with a particular focus on commercially important species, commonly produced by the European aquaculture industry, specifically in recirculated aquaculture systems (RAS). Overall, results suggest that both acute and chronic exposures to lipid-lowering compounds may have adverse effects on fish, disrupting their capacity to excrete exogenous substances, as well as both lipid metabolism and homeostasis, causing severe ontogenetic and endocrinological abnormalities, leading to hampered reproductive success (e.g., gametogenesis, fecundity), and skeletal or muscular malformations, having serious repercussions on fish health and welfare. Nonetheless, the available literature focusing on the effects of statins or fibrates on commonly farmed fish is still limited, and further research is required to understand the implications of this matter on aquaculture production, global food security and, ultimately, human health.

Multidisciplinary Management of Craniopharyngiomas in Children: A Single Center Experience.

Craniopharyngioma (CP) is a rare brain tumor involving the sellar region. The best management is still debated. Gross total resection (GTR) is considered the best option to improve recurrence-free survival, but considerable long-term sequelae with a significant impact on quality of life have been reported. Subtotal resection followed by radiotherapy achieves similar disease control compared to GTR with less complications. We retrospectively reviewed 10 pediatric patients affected by CP treated with partial resection and subsequent proton therapy (PBT). We reviewed visual, endocrinological, and neuropsychological data at baseline, after surgery, and after radiation for all patients. At the time of diagnosis, visual impairment was detected in 70% of patients and endocrinological abnormalities in 50%. All patients were subject to one or more surgical procedures. Surgery had no impact on visual status; however, it caused a worsening of endocrine function in half of patients. After surgery, all patients underwent PBT, achieving a partial response in 7 out of 10 patients (70%), while stable disease was observed in the other three patients (30%) at a median follow-up of 78 months from the end of PBT. Both visual and endocrine deficits were stable after PBT, with neurocognitive performance scores unchanged from baseline. A conservative surgical approach followed by PBT represents a safe and effective strategy to manage CP and limit long-term sequelae.

PSAT047 Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Abstract Background Congenital Adrenal Hyperplasia (CAH) is classically attributed to defective 21-hydroxylase, caused by mutations in CYP21A2, impairing the production of mineralocorticoids and glucocorticoids and subsequently shifting steroidogenesis towards androgen production. This produces a classic constellation of neonatal symptoms, including genital virilization, salt-wasting, and adrenal crisis. A rare cause of CAH is a defect in 11β-hydroxylase from a mutation in CYP11B1, preventing production of cortisol and corticosterone, resulting in hypertension, hypokalemia, and androgen excess. Reports of combined mutations in CYP21A2 and CYP11B1 in the literature and the clinical manifestations of such a case are not well described. Here we present a case report wherein a pair of heterogenous mutations in CYP2A12 and CYP11B1 were detected in a new diagnosis of nonclassic Congenital Adrenal Hyperplasia, including a previously undescribed mutation in CYP11B1. Clinical Case The patient is a 30-year-old female who presented to her primary care clinic with teenage-onset irregular menses occurring every 2-3 months. She also reported hirsutism, but never had acne, changes in thirst or urination, or breast discharge. Primary evaluation revealed prolactin of 34.7 ng/mL, prompting a pituitary MRI which revealed a 2×3mm lesion. At this point, referral was made to endocrinology for endocrinological. PCOS was felt to be the top differential for her hirsutism and irregular menses but further workup to rule out CAH revealed a 17-OH-Progesterone of 554 ng/dL and a Testosterone of 83 ng/dL. Subsequently, a 250 mcg cosyntropin test increased 17-OH progesterone to 837 ng/dL and resulted in a cortisol of 24.7 mCg/dL after 60 minutes. Subsequent CAH gene sequencing was performed and revealed a heterogeneous pathogenic CYP21A2 variant (c.332_339 del; p.Gly111Valfs*21) and a heterogeneous previously undescribed variant of undetermined significance in CYP11B1 (c.1123C&amp;gt;T; p.Leu375Phe). Conclusion At least 100 mutations of CYP11B1 have been found to cause CAH due to 11β-Hydroxylase deficiency. Our case adds to the growing database of described mutations in CY11B1 and suggests that heterogenous mutations in two different genes may present phenotypically as nonclassic CAH in a potentially epistatic fashion. This enriches earlier conclusions that broader genetic analysis beyond CYP21A2 deletions is needed to identify the genotypes of those with CAH due to the complex diversity of genetic mutations, and ought to remind clinicians to consider it as a diagnosis, particularly in young women whose hyperandrogenism or menstrual irregularities cannot be explained by common endocrinological abnormalities or do not have an appropriate response to traditional treatment. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

Compatible cut-off values for luteinizing hormone and the luteinizing hormone/follicle-stimulating hormone ratio in diagnostic criteria of the Japan Society of Obstetrics and Gynecology for polycystic ovary syndrome.

The abnormal secretion of luteinizing hormone (LH) is one of the typical features of polycystic ovary syndrome (PCOS) and adopted in the diagnostic criteria of the Japan Society of Obstetrics and Gynecology (JSOG). We investigated cut-off values for LH and the LH/follicle-stimulating hormone (FSH) ratio in resent two measurement systems for the diagnosis of PCOS. Ninety-nine controls and 106 patients with PCOS were enrolled. Serum LH and FSH levels were measured using an electrochemiluminescence immunoassay (ARCHITECT) and chemiluminescence immunoassay (ECLusys). We examined the distribution of the measured levels, selected the conversion closest to the standard normal distribution in the control group, and calculated mean + 1 SD values for LH and the LH/FSH ratio as candidates. Cut-off values coincided with the medians of the candidates in the two assay systems using a regression equation. We calculated the endocrinological abnormality rate in PCOS according to the JSOG criteria by abnormal LH secretion and elevated T. Cut-off values for LH (mIU/mL) and the LH/FSH ratio were 7.1 and 1.21, respectively, in ARCHITECT, and 9.9 and 1.51, respectively, in ECLusys. The detection rates of endocrinological abnormalities in PCOS were 72.2% and 70.6% in the nonoverweight/obese PCOS group and overweight/obese PCOS group, respectively, in ARCHITECT, and 69.4% and 73.5%, respectively, in ECLusys. We obtained cut-off values of LH and the LH/FSH ratio for diagnostic criteria of JSOG criteria for PCOS, that were highly compatible between two major assay systems. These cut-off values will contribute to the diagnosis of PCOS in Japan and presumably in women of Asian ethnicities.

An extended machine learning technique for polycystic ovary syndrome detection using ovary ultrasound image

Polycystic ovary syndrome (PCOS) is the most prevalent endocrinological abnormality and one of the primary causes of anovulatory infertility in women globally. The detection of multiple cysts using ovary ultrasonograpgy (USG) scans is one of the most reliable approach for making an accurate diagnosis of PCOS and creating an appropriate treatment plan to heal the patients with this syndrome. Instead of depending on error-prone manual identification, an intelligent computer-aided cyst detection system can be a viable approach. Therefore, in this research, an extended machine learning classification technique for PCOS prediction has been proposed, trained and tested over 594 ovary USG images; where the Convolutional Neural Network (CNN) incorporating different state-of-the-art techniques and transfer learning has been employed for feature extraction from the images; and then stacking ensemble machine learning technique using conventional models as base learners and bagging or boosting ensemble model as meta-learner have been used on that reduced feature set to classify between PCOS and non-PCOS ovaries. The proposed technique significantly enhances the accuracy while also reducing training execution time comparing with the other existing ML based techniques. Again, following the proposed extended technique, the best performing results are obtained by incorporating the “VGGNet16” pre-trained model with CNN architecture as feature extractor and then stacking ensemble model with the meta-learner being “XGBoost” model as image classifier with an accuracy of 99.89% for classification.

Study of endoscopic transnasal trans-sphenoidal approach in pituitary macroadenoma

Introduction: Pituitary Adenomas account for approximately 10-15% of all intracranial tumors. They are classified according to their secretory activity, presenting with varied hormonal and visual symptoms. The aim of treatment of pituitary adenomas is reversal of endocrine dysfunction with preservation of normal pituitary function, along with decompression of nervous structures and control of tumor growth in large tumors. Aims and Objective: The aim of this study was to report the efficacy and safety of Trans- Sphenoidal surgery. Material and Methods: 30 cases were included in the study.All patients were assessed clinically for visual symptoms, endocrine signs and symptoms, headache and others. Clinical and radioimaging preoperative assessment was done in all patients. Reassessment was done accordingly in postoperative period and in follow up examination. Immediate postoperative outcome (course), complications, postoperative radiotherapy or medical therapy resultswere assessed. Results: Most common age group was 41-50 years, with male:female incidence 1:1.3. Headache followed by Visual disturbance were the most common clinical symptoms observed. Commonest field defect observed was bitemporal hemianopia. Increased GH level (33%) followed by hyperprolactinemia (13%) were the most common endocrinologic abnormalities. Post operative complications of CSF leak and Diabetes insipidus were observed.

Cardiovascular Abnormalities in Williams-Beuren Syndrome

We present different cases of cardiovascular abnormalities in 3 patients with WS aged between 8months and 7 years. Williams-Beuren Syndrome is characterized by specific facial dysmorphism that may look like an “elfin face”, congenital heart diseases, cognitive disorder, social personality disorder and endocrinological abnormalities. WBS is generally sporadic, it is caused by de novo deletions, and has a recurrence risk lower than 5%. Early diagnosis of this syndrome is important to start therapy for other medical problems that may develop. Lifelong cardiac follow up is necessary because of the risks of developing vasculopathy or arterial hypertension. The importance of research during the neonatal period is pointed up in order to reduce morbidity and mortality rates and ensure a better quality of life during the development of these children.

Mental Disorders of the Female Reproductive Cycle

Background: Mental disorders associated with the female reproductive cycle (premenstrual period, pregnancy, lactation, infertility, perimenopause) have been a clinical reality throughout the history of the study of psychosomatic health factors in women. The most recent ICD-11 classication distinguishes an independent categories, “Mental or behavioral disorders associated with pregnancy, childbirth and the puerperium, with/without psychotic symptoms”. The clinical and etiological variety of mental disorders associated with female reproductive cycle (MDFRC) requires an integrated approach to diagnostics and choice of treatment methods. Objective: to analyze the results of the main scientic studies concerning pathogenetic and clinical characteristics of MDFRC. Material and methods: the key words “mental disorders, premenstrual syndrome, pregnancy, infertility, lactation, perimenopause, involution” were used to search the databases of articles of domestic and foreign authors (PubMed, eLibrary, Scopus and ResearchGate) published over the past 25 years. Conclusion : The presented review analyzed the results of studies showing that a variety of psychoemotional stresses and endocrinological abnormalities at different stages of the female generative cycle are risk factors for the development of psychiatric disorders. MDFRC include heterogeneous and polymorphous anxiety, affective, dysmorphic, and psychotic symptom complexes. However, the lack of a clear understanding of their pathogenesis leads to persistent disagreement as to whether MDFRC (postpartum psychosis, involutionary melancholia/hysteria, etc.) are independent psychiatric disorders or provoked exacerbations of other psychiatric diseases in predisposed women. The presented review allows to improve understanding of MDFRC, their risk factors and clinical variants, which has important practical value in diagnostics and choice of treatment methods.