Hormone Test Research Articles

Nutraceutical composition (yeast β-glucan, prebiotics, minerals, and silymarin) predicts improvement of sleep quality and metabolic parameters: A randomized pilot study

Background & AimsThe search for integrative and natural therapies that favor homeostasis to boost sleep and diet quality took place for young adult populations as a non-pharmacological strategy for long-term good quality of life. Thus, the present pilot study aims to investigate the effects of 90-day consumption of a nutraceutical composition on the neuro-immune-endocrine axis, providing better sleep quality and health improvement. MethodsFor this, from March 2021 to June 2021, twenty-two Brazilian young adult volunteers (women and men) with BMI between 18.5 to 34.9 kg/m2 were divided into three distinct supplementation groups: NSupple; NSupple plus_S, and NSupple plus. Briefly, the supplement compositions included yeast β-glucan, prebiotics, and minerals in different concentrations associated or not with the herbal medicine silymarin.Neither nutritional nor physical activity interventions were performed during this pilot study period. The anthropometrics measures, questionnaires answer data, and harvest blood for metabolic, inflammatory, and hormonal tests were collected at baseline time (day zero-T0) and day 90 (T90) post-supplementation. ResultsOur results highlight that the supplementation reduced body mass index (BMI), Waist-to-height ratio (WHtR), waist circumference, AST/ALT ratio, alkaline phosphatase, and HbA1c. Post-supplementation the IL-6 and IL-10 levels and the sleep, humor, and quality of life scores were suggested to improve. Sleep quality improvement seems to predict the reduction of adiposity-related body measures. ConclusionIn sum, the nutraceutical supplementation might be related to anthropometric, metabolic, and endocrine parameters after 90 days reflecting on perception of humor, sleep, and life quality enhancement. However, it is important to recognize the limitation of the data presented considering that this was a pilot study. Clinical trial registrationClinicalTrials.gov, identifier NCT04810572 registered on 20th February 2021.

Determination of Reference Intervals of Some Biochemistry Tests by the Bhattacharya and Hoffmann Methods.

Clinical laboratory tests are being evaluated with reference intervals (RI). Therefore, it is important that each laboratory determines and classifies its own reliable RI for each test to ensure an accurate and effective interpretation. The proposed method for determining RI is the "direct" approach, but it is a difficult, troublesome, time-consuming, and expensive method. An alternative approach is the "indirect" approach. In this study, we aimed to compare the RI values determined by the indirect method from the Calcium (Ca), Magnesium (Mg), Phosphate (P), 25-Hydroxy Vitamin D (25(OH)D), and Parathyroid hormone (PTH) test results with the RI provided by the manufacturer. A total of 1,520,314 Ca, Mg, P, 25(OH)D, and PTH test results, which were studied in our laboratory between January and November 2022, were included in the study. Data cleaning was done for individuals between the ages of 18 - 89, and only one record was allowed. The Tukey method was used to determine and exclude extreme values. Ca and Mg tests were divided into age groups (18 - 59 and 60 - 89 years), P, 25(OH)D, and PTH tests were divided into female - male groups. RI was calculated by using the Bhattacharya and Hoffmann methods. CLIA 19 acceptable limits were used to evaluate the compliance with the manufacturer's RI. The RI results obtained by applying the Bhattacharya and Hoffmann methods were found to be significantly consistent and compatible with each other. According to the manufacturer's RI, Ca and Mg were compatible with RI in both methods, P was considered compatible with PTH and 25(OH)D upper reference limit in the Bhattacharya method, P was considered compatible with 25(OH)D lower reference limit and PTH upper reference limit in the Hoffmann method, while 25(OH)D lower reference limit was found to be different in the Bhattacharya method, and 25(OH)D upper reference limit and PTH lower reference limit were found to be different in the P male group in the Hoffmann method. We believe that it is of great importance for each laboratory to determine the RI specific for the population they serve and to choose the analytical method they use according to age and gender while periodically updating them to interpret the test results correctly.

Antimüllerian hormone levels are associated with time to pregnancy in a cohort study of 3,150 women

ObjectiveTo study the association between AMH and time to pregnancy. While it has been hypothesized that serum anti-Müllerian hormone (AMH) levels may indicate the chance of conception, findings have been mixed. Given that any association is expected to be modest, and it is possible that previous studies have been underpowered, we investigated this relationship in the largest prospective cohort to date. DesignProspective time-to-pregnancy cohort study. Subjects3,150 US women who had been trying to conceive for less than 3 months and had purchased a Modern Fertility Hormone Test. ExposureWe developed a discrete time-to-event model utilizing a binomial complementary log-log error structure within a generalized additive modeling framework, adjusting for confounding factors such as age, BMI, parity, smoking status, PCOS, and others. Sensitivity analyses were performed in women with regular menstrual cycles (21-35 days), who did not report using fertility treatments, using alternate AMH categories (<0.7, 0.7-8.5, >8.5 ng/mL), and AMH as a continuous measure. Main Outcome MeasuresPrimary outcomes included cumulative conception probability within 12 cycles and relative fecundability per menstrual cycle. Conception was defined by a self-reported positive pregnancy test. ResultsParticipants contributed 7.21 ± 5.32 cycles, with 1,325 (42.1%) achieving a pregnancy. Women with low AMH (<1ng/mL, n=427) had a lower chance of natural conception (Adjusted Hazard Ratio (adjHR 0.77, 95%CI 0.64, 0.94, p=0.009) compared to women with a normal AMH (1 - 5.5ng/mL). There was no difference between high (5.5+ ng/ml) and normal AMH categories (adjHR 1.11, 95% CI 0.94, 1.31, p=0.2). The inclusion of AMH improved the model (net reclassification index 0.10 [ 0.06 - 0.14); P<0.001). The instantaneous probability of conception was highest in cycle 4 across all AMH categories: the probability of natural conception was 11.2% (95% CI 9.0, 14.0) for low AMH, 14.3% (95% CI 12.3, 16.5) for normal AMH, and 15.7% (95%CI 12.9, 19.0) for high AMH. In the regular cycles sensitivity analysis (n=1,791), the low AMH group had a lower chance of conception (adjHR 0.77 95% CI 0.61, 0.97, p = 0.028) in the low AMH group compared to normal AMH, and similarly in the continuous model (adjHR 0.90; 95% CI 0.85-0.95, p<0.0001). ConclusionLow AMH levels (<1 ng/ml) are independently associated with a modest but significant reduction in the chance of conception.

PLASMA PROLIDASE ACTIVITY AND ITS RELATION WITH NUMBER OF CYSTS IN POLYCYSTIC OVARY SYNDROME

Background: Plasma prolidase, a Matrix Metalloproteinase (MMP), has a role in maintaining extracellular matrix remodelling in ovary. The aim of this study was to find out the activity and association with the clinical and biochemical parameters of plasma prolidase in different phenotypes of Polycystic Ovary Syndrome (PCOS). Methods: Total 90 women (16-22 years) with PCOS were enrolled in the study. Data regarding anthropometric measurements (weight, height, BMI and WHR) were taken. Transabdominal ultrasonography was done by trained sonographer. Hormonal tests (free testosterone, FSH, LH), and metabolic tests (including FBS) were done by chemiluminescence analyzer. Participants were divided into four groups. Group 1 (n=25), hyperandrogenism with oligo-anovulation (HO), Group 2 (n=26), polycystic ovary with oligo-anovulation (PO), Group 3 (n=20), hyperandrogenism with polycystic ovary (HP), Group 4 (n=19), with presence of all these three features (PHO). Five ml blood sample was taken for plasma Prolidase by Spectrophotometry. Kruskal Wallis test and spearman correlation were used for statistical analysis. Results: Among 90 women 52.2% had both polycystic ovaries, 13.3% has one polycystic ovary and 34.4% had normal ovaries on ultrasound. Median difference of plasma Prolidase, LH, FSH, free testosterone and HOMA-IR between groups were found statistically significant (p&lt;0.05). Plasma Prolidase had a direct relation (r=0.374) with number of cysts on ultrasound. Conclusion: Plasma Prolidase activity was high in PCOS phenotypes and positive correlation was found between Prolidase levels and number of cysts. Prolidase can be used as diagnostic and prognostic marker in PCOS. Pak J Physiol 2024;20(2):14-8

The Importance of TSH Testing and Adjusted Reference Ranges in Pregnant and Pregnancy-Planning Women: A Case Study

Thyroid function is critical during pregnancy, as thyroid hormones play a significant role in the development of the fetal brain and nervous system. Thyroid Stimulating Hormone (TSH) testing is an essential tool in monitoring thyroid function. This case study highlights the importance of TSH testing in women who are pregnant or planning to become pregnant. It discusses the impact of thyroid dysfunction on pregnancy outcomes and underscores the need for routine TSH screening to ensure maternal and fetal health. This case study emphasizes that pregnancy panel labs should highlight the need for altered reference ranges for TSH in women planning to conceive, ensuring results above 2.5 mIU/L are flagged for follow-up and potential treatment. By adjusting the reference ranges and providing timely intervention, better pregnancy outcomes can be achieved, safeguarding both maternal and fetal health.

Ovarian neuroendocrine tumor metastases can induce estrogen production in postmenopausal patients.

Neuroendocrine tumors (NETs) are malignant neoplasms that can be associated with specific hormonal syndromes. We describe a novel syndrome of postmenopausal vaginal bleeding and ovarian estradiol overproduction due to ovarian NET localizations. An extensive workup was performed for 2 index patients with ovarian metastases of small bowel neuroendocrine tumors and symptoms of postmenopausal vaginal bleeding. Clinically significant ovarian estrogen production was demonstrated by a combination of ovarian vein sampling and normalization of circulating estrogen levels after oophorectomy. Immunohistochemical analyses revealed marked aromatase immunoactivity in the ovarian NET cells, while CYP17A1 and SF-1 were detected in the adjacent ovarian stromal cells but not the NET cells. Ex vivo and in vivo endocrine tests were unable to identify a paracrine mechanism of ovarian estradiol overproduction by NET cells. A retrospective search of electronic medical records revealed that 21% (14/66) of postmenopausal patients with an ovarian NET localization reported symptoms of vaginal blood loss. Together, these findings support the presence of a novel NET-associated hormonal syndrome.

Association between weight-adjusted waist index and testosterone deficiency in adult American men: findings from the national health and nutrition examination survey 2013–2016

BackgroundTestosterone deficiency (TD) and obesity are globally recognized health concerns, with a bidirectional causal relationship between them. And a newly discovered obesity indicator, the Weight-Adjusted-Waist Index (WWI), has been proposed, demonstrating superior adiposity identification capability compared to traditional body mass index (BMI) and waist circumference (WC) indicators. Therefore, we present the inaugural investigation into the associations of WWI with total testosterone levels and the risk of TD.MethodsData restricted to the National Health and Nutrition Examination Survey (NHANES) between 2013 and 2016 were analyzed. Only males aged > 20 years who completed body measures and underwent serum sex hormone testing were potentially eligible for analysis. Weighted multivariable linear regression and logistic regression analyses were employed to investigate the relationships between WWI and total testosterone levels, and the risk of TD, respectively. Smooth curve fittings and weighted generalized additive model (GAM) regression were conducted to examine the linear relationship among them. Additionally, subgroup analyses with interaction tests were performed to assess the stability of the results.ResultsFinally, a total of 4099 participants with complete data on testosterone and WWI were included in the formal analysis. The mean age of study participants was 46.74 ± 0.35 years with a TD prevalence of 25.54%. After adjusting all potential confounders, the continuous WWI displayed a negative linear relationship with total testosterone levels (β=-61.41, 95%CI: -72.53, -50.29, P < 0.0001) and a positive linear relationship with risk of TD (OR = 1.88, 95%CI: 1.47, 2.39, P < 0.0001). When WWI was transformed into quartiles as a categorical variable, participants in Q4 exhibited lower total testosterone levels (β=-115.4, 95%CI: -142.34, -88.45, P < 0.0001) and a higher risk of TD (OR = 3.38, 95% CI: 2.10, 5.44, P < 0.001). These associations remained stable in subgroup analyses without significant interaction (all P for interaction > 0.05).ConclusionsThis investigation firstly unveiled a negative linear association between WWI and total testosterone levels, coupled with a positive linear relationship with the prevalence of TD in U.S. male adults aged 20 years and older. Further studies are needed to validate the potential utility of WWI for the early identification and timely intervention of TD.

Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy.

Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy (DMD) treated with long term oral glucocorticoid. This study aims to report the frequency of delayed puberty in DMD from examination by a paediatric endocrinologist alongside detailed endocrine investigations. All boys with DMD aged at least 14 years in January 2022 known to the paediatric neuromuscular service (2016-2022) were included in this study. Delayed puberty was defined based on testicular volume and genital staging in comparison to published puberty nomogram. Twenty-four out of 37 boys (65%) had evidence of delayed puberty, 23/24 (96%) of those with delayed puberty were on glucocorticoid therapy all of whom were on daily glucocorticoid. On the other hand, 7/13 (54%) of those with normal timing of puberty were on glucocorticoid; 2/7 (29%) were on the intermittent regimen. Of those who were on daily glucocorticoid therapy at the time of assessment of puberty, 23/28 (82%) had evidence of delayed puberty. In boys with delayed puberty, endocrine investigations showed low luteinizing hormone (LH) with undetectable testosterone levels, a pre-pubertal response with lutenizing hormone releasing hormone test and sub-optimal testosterone levels with prolonged human chorionic gonadotropin stimulation. The frequency of delayed puberty in boys with DMD was 65%. Eighty-two percent of adolescent boys with DMD on daily glucocorticoid had evidence of delayed puberty. Biochemical investigations point to functional central hypogonadism in these adolescents. Our data supports the routine monitoring of puberty in boys with DMD.

(065) ARE CLINICS THAT DO NOT HAVE A MSCP-CERTIFIED PROVIDER MORE LIKELY TO OFFER GUIDELINE-NON-CONCORDANT TREATMENT?

Abstract Introduction Menopausal hormone therapy is the most efficacious option for treating vasomotor symptoms, the genitourinary syndrome of menopause, and to prevent fractures and bone loss. However, publication of contradictory evidence about the risks associated with menopausal hormone therapy and changing recommendations created confusion among patients and providers about how best to manage symptoms. Because providers with varying degrees and specialties may take care of midlife women, and there is no specific certification required to offer menopause treatment, The Menopause Society established its competency exam in 2002 to set the standard for menopause care and assist women in locating clinicians who provide optimal menopause-related care. Objective To identify clinics advertising menopause treatment in Ohio, Michigan, and Pennsylvania and evaluate whether clinics not affiliated with a MSCP-certified provider are more likely to offer guideline-non-concordant treatment compared to clinics affiliated with a MSCP- certified provider. Methods We performed an internet search to identify clinics providing menopause treatment in Ohio, Michigan, and Pennsylvania. From each clinic’s website we abstracted the location, whether the clinic offered guideline-non-concordant treatment (hormone testing, bioidentical “hormone menopause therapy (HRT)”, or compounded HRT), whether the clinic advertised that menopausal hormone therapy(MHT) would promote youthful appearance or weight loss, and whether the clinic accepted insurance. We checked clinic personnel against the Menopause Society directory of practitioners to determine if the clinic was affiliated with a MSCP-certified provider. We used Fisher’s exact test to evaluate association between affiliation with a MSCP provider and guideline-non-concordant care, inaccurate claims about MHT, and accepting insurance. Our primary outcome was odds of offering hormone testing. Results We identified 174 clinics (41% in OH, 28% in PA, and 31% in MI). 13% of clinics were affiliated with a MSCP-certified provider. Clinics with a MSCP-certified provider are significantly more less likely to advertise hormone testing (primary outcome, OR = 0.11, 95% confidence interval: 0.02 to 0.39), compounded hormone therapy (OR = 0.06, 95% confidence interval: 0.001 to 0.41), and bioidentical hormone therapy (OR = 0.07, 95% confidence interval: 0.001 to 0.26), compared to clinics without a MSCP-certified provider. MSCP provider-affiliated clinics are also less likely to advertise that hormone replacement therapy will help maintain youth or help with weight loss (Table). Clinics with a MSCP-certified provider are more likely to accept insurance (OR = 7.55, 95% confidence interval: 1.59 to 72.29). Conclusions Our research has shown that in the states of Ohio, Michigan, and Pennsylvania, MSCP-certified providers were more likely to adhere to the Menopause Society’s guidelines and not advertise for compounded or bioidentical hormones, recommend hormone testing, or advertise hormones for a youthful appearance or weight loss. These clinics were also more likely to accept insurance. Providers who work with midlife women should consider obtaining their MSCP certification to remain current with evidence-based practice and make it easier for patients to locate a provider who is following the most up to date guidelines. Disclosure Any of the authors act as a consultant, employee or shareholder of an industry for: Astellas.

An in vitro testicular organoid model for the study of testis morphogenesis, somatic cell maturation, endocrine function, and toxicological assessment of endocrine disruptors

Male reproductive capacity has fallen considerably in recent decades; in addition, the incidence of testicular cancer has increased in many developed countries. The cause of this phenomenon is unknown, but environmental toxicants are considered a major contributing factor. To study potential reproductive toxicants, robust in vitro testis models are needed. We have recently established a porcine testis organoid system with a high resemblance to the architectures of innate testis tissue. Here, we further investigated the testis morphogenesis, cell maturation, and endocrine function of the testis organoids. We also challenged this system with abiraterone, a steroidogenic inhibitor, to validate its suitability as an in vitro platform for endocrine toxicology tests. Our results showed that the testis cells in the organoids reorganize into testis cordal structures, and the cordal relative areas increase in the organoids over time of culture. Moreover, the diameters and cell numbers per cross-section of the cordal structures increased over time. Interestingly, Sertoli cells in the organoids gradually underwent maturational changes by showing increased expression of androgen receptors, decreased expression of the anti-müllerian hormone, and formation of the blood-testis barrier. Next, we confirmed that the organoids respond to hormonal stimulation and release multiple sex hormones, including testosterone, estradiol, and progesterone. Finally, we showed that the production of testosterone and estradiol in this system can be inhibited in response to the steroidogenic inhibitor. Taken together, our organoid system provides a promising in vitro platform for male reproductive toxicology studies on testis morphogenesis, somatic cell maturation, and endocrine production.

Clinically active pituitary tumors

The widespread use of diagnostic imaging has led to an increase in the incidence of pituitary tumors. The majority of incidentalomas are hormone-inactive (HI) pituitary microadenomas. The most common clinically relevant pituitary adenomas are prolactin-secreting, followed by HI, and far less common are growth hormone (GH)-, adrenocorticotropic hormone (ACTH)- and thyroid-stimulating hormone (TSH)-secreting adenomas. Pituitary adenomas are usually benign, although aggressive growth and invasion occurs in individual cases. Very rarely, they give rise to metastases and are then termed pituitary carcinomas. All pituitary tumors require endocrine testing for pituitary hormone excess. In addition to the medical history and clinical examination, laboratory diagnostics are very important. Symptoms such as irregular menstruation, loss of libido or galactorrhea often lead to the timely diagnosis of prolactinomas, and hyperprolactinemia can easily confirm the diagnosis (considering the differential diagnoses). Diagnosis is more difficult for all other hormone-secreting pituitary adenomas (acromegaly, Cushing's disease, TSHoma), as the symptoms are often non-specific (i.e., headaches, weight gain, fatigue, joint pain). Furthermore, comorbidities such as hypertension, diabetes, and depression are such widespread diseases that pituitary adenomas are rarely considered as the underlying cause. Timely diagnosis and appropriate treatment have asignificant impact on morbidity, mortality, and quality of life. Therefore, the role of primary care physicians is very important for achieving an early diagnosis. In addition, patients with pituitary adenomas should always be referred to endocrinologists to ensure optimal diagnosis as well as treatment.

Impact of coenzyme Q10 as an adjuvant therapy to letrozole on spermiogram results and sex hormone levels in Iraqi men with infertility; randomized open label comparative study.

Background: Worldwide, infertility affects about 15% of reproductive-age couples. In many cases, infertility can't be treated, however new treatment options with promising value have been involved in recent clinical trials. The aim of this clinical trial was to evaluate the impacts of adding coenzyme Q10 (CoQ10) to letrozole on the results of spermiogram and sex hormone tests in men diagnosed with idiopathic oligoasthenoteratozoospermia (iOAT) syndrome, which is a type of male defective spermatogenesis of unknown etiology. Methods: This randomized, open-label, parallel two-arm interventional study included 67 adult male patients aged 18-60 years with a confirmed diagnosis of iOAT syndrome recruited from The High Institute for Infertility Diagnosis & Assisted Reproduction Technologies/Nahrain University. Patients were randomly separated into two groups, Group A included 29 patients treated with letrozole 2.5 mg tablet orally twice a week, Group B included 38 patients treated with a combination of letrozole 2.5 mg tablet orally twice a week plus CoQ10 400 mg per day. Both groups completed treatment for three months. Semen samples, serum follicle-stimulating hormone (FSH), estradiol (E 2), and testosterone (T) were analyzed at day one, and at the end of month one, two and three. Results: Both groups showed that sperm concentration, normal morphology, total sperm count and motility, serum testosterone and FSH levels, and T/E 2 ratio were significantly increased, while estradiol levels significantly decreased after three months of treatment. Seminal fluid volume changed significantly in group A only. In comparing between the two groups, all measured parameters, apart from sperm motility and FSH level, demonstrated a significant difference after three months of treatment, while sperm volume reached significant value after only two months of therapy. Conclusions: CoQ10 as adjuvant treatment to letrozole effectively improved most of the tested sperm parameters in Iraqi men with iOAT. Registration: ClinicalTrials.gov ( NCT05847257, May 6, 2023).

Social Media Promotion of Health Tests With Potential for Overdiagnosis or Overuse: Protocol for a Content Analysis.

In recent years, social media have emerged as important spaces for commercial marketing of health tests, which can be used for the screening and diagnosis of otherwise generally healthy people. However, little is known about how health tests are promoted on social media, whether the information provided is accurate and balanced, and if there is transparency around conflicts of interest. This study aims to understand and quantify how social media is being used to discuss or promote health tests with the potential for overdiagnosis or overuse to generally healthy people. Content analysis of social media posts on the anti-Mullerian hormone test, whole-body magnetic resonance imaging scan, multicancer early detection, testosterone test, and gut microbe test from influential international social media accounts on Instagram and TikTok. The 5 tests have been identified as having the following criteria: (1) there are evidence-based concerns about overdiagnosis or overuse, (2) there is evidence or concerns that the results of tests do not lead to improved health outcomes for generally healthy people and may cause harm or waste, and (3) the tests are being promoted on social media to generally healthy people. English language text-only posts, images, infographics, articles, recorded videos including reels, and audio-only posts are included. Posts from accounts with <1000 followers as well as stories, live videos, and non-English posts are excluded. Using keywords related to the test, the top posts were searched and screened until there were 100 eligible posts from each platform for each test (total of 1000 posts). Data from the caption, video, and on-screen text are being summarized and extracted into a Microsoft Excel (Microsoft Corporation) spreadsheet and included in the analysis. The analysis will take a combined inductive approach when generating key themes and a deductive approach using a prespecified framework. Quantitative data will be analyzed in Stata SE (version 18.0; Stata Corp). Data on Instagram and TikTok have been searched and screened. Analysis has now commenced. The findings will be disseminated via publications in peer-reviewed international medical journals and will also be presented at national and international conferences in late 2024 and 2025. This study will contribute to the limited evidence base on the nature of the relationship between social media and the problems of overdiagnosis and overuse of health care services. This understanding is essential to develop strategies to mitigate potential harm and plan solutions, with the aim of helping to protect members of the public from being marketed low-value tests, becoming patients unnecessarily, and taking resources away from genuine needs within the health system. DERR1-10.2196/56899.

Treatment modalities for advanced solid pseudopapillary tumor of the pancreas.

e16327 Background: Solid pseudopapillary tumor (SPT) of the pancreas is a rare low-grade malignant tumor. However, a minority of SPT patients present aggressive behavior and develop recurrent or metastatic diseases. The treatment strategies of advanced SPTs remain unclear. Our study aimed to explore the treatment modalities of aggressive SPTs and the role of endocrine therapy. Methods: The data on clinicopathologic characteristics and treatment of advanced SPT patients from Sun Yat-Sen University Cancer Center and Shen Zhen People's Hospital were collected. The treatment modalities were explored by co-analyzing our local cohort and published literatures. Single sample gene set enrichment analysis (ssGSEA) was used to explore the functional enrichment pathway (GSE43795). Fresh surgical specimens from 10 SPT patients were collected for endocrine drugs sensitive test in vitro by performing tumor histoculture end-point staining computer image analysis (TECIA). Results: A total of 77 advanced SPT patients including 14 cases in our local cohort and 63 cases from published literatures were enrolled. 60 patients received local treatment including cytoreductive surgery, interventional therapy or radiation therapy. 55 patients who had undergone cytoreductive surgery have better outcome compared with others (P = 0.046, HR = 4.12). 31 patients received systemic chemotherapy and 6 patients received targeted therapy. There were 2 patients achieved partial response after chemotherapy. In our local cohort, 5 patients received endocrine therapy with tamoxifen plus megestrol. One patient achieved partial response with duration of response (DOR) of 89 months. 4 patients showed stable disease. ssGSEA for GSE43795 showed that Wnt signaling pathway and its inhibitory pathway-progesterone receptor signaling pathway were simultaneously enriched in SPTs. The results of endocrine drug sensitive test in vitro by TECIA showed response rate of 50% (5/10) in megestrol group, 40% (4/10) in tamoxifen group, and 30% (3/10) in testosterone propionate group. Conclusions: Advanced SPTs did not appear chemosensitive. Cytoreductive surgery may improve survival. Simultaneously enriching Wnt and progesterone receptor signaling pathway may partially explain the low aggressive ability of SPT and their unbalance may lead to the aggressive behavior of SPT. Endocrine therapy with tamoxifen plus megestrol, by enhancing the progesterone signaling pathway, seems to be a promising regimen for advanced SPTs, which is worth to be noted and further studied.

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS

Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. We have developed a novel MALDI-TOF MS assay that can identify common variants and deletions of CYP21A2 in the Chinese population. Thirty-seven clinical patients with CAH confirmed by Sanger sequencing and MLPA analysis were detected by MALDI-TOF MS assay. Two CYP21A2 variants were detected in 30 patients and one CYP21A2 variant was detected in 7 patients. The MALDI-TOF MS assay detected 67 mutant alleles in 37 patients with a detection rate of 90.5%. Sanger sequencing revealed that three variants in seven patients were not included in the designed panel. Eleven distinct CYP21A2 variants were identified, including five missense variants, two nonsense variants, two large gene deletions, one splice variant, and one frameshift variant. The most frequent variant was c.293-13C > G (37.84%), followed by c.518T > A (21.62%) and exon 1–7 deletion (17.57%).The high-throughput MALDI-TOF MS assay that can simultaneously detect common variants and deletions of CYP21A2. This assay can be used for population-based genetic screening and rapid detection of suspected patients, and is expected to be a valuable complement to biochemical-based testing for the detection of CAH.

Factors associated with fertility status assessment among female survivors of childhood cancer.

10072 Background: Female survivors of childhood cancer with prior gonadotoxic treatment are at risk for infertility. As such, fertility status assessment (FSA) with ovarian reserve assessment and antral follicle count in consultation with a fertility specialist may be indicated to evaluate options for biological parenthood. FSA is underutilized in this population. This study explored psychosocial, developmental, and clinical factors associated with FSA. Methods: Female survivors (aged 18-29 years, diagnosis &lt; 21 years, &gt; 1 year from treatment completion, prior gonadotoxic treatment) were recruited from four cancer centers in the U.S. Participants reported sociodemographics (race, sexual orientation, gender identity, relationship status), developmental milestones (living and financial independence, full-time employment), reproductive concerns (modified Reproductive Concerns Scale), knowledge of reproductive health, decisional factors, and history of FSA. Clinical characteristics (cancer diagnosis, treatment-related risk for infertility, hormonal testing, clinical encounter with pediatric reproductive health subspecialist [gynecology, endocrinology]) were abstracted from the medical record. Multivariate logistic regression was performed to calculate odds ratios (OR) and 95% confidence intervals (95%CI) for factors associated with FSA. Results: Of 325 participants, N = 260 completed all survey items of interest. Participants were an average of 23.7±3.1 years, 74% non-Hispanic white, 79% heterosexual and cisgender, and 48% in a committed relationship. Compared with those without FSA (N = 164), participants who completed an FSA (N = 96) reported greater attainment of developmental milestones (OR 2.20, 95%CI: 1.10-3.85, p = .027), greater desire for reproductive information (OR 1.86, 95%CI: 1.2-2.77, p = .001), greater knowledge regarding fertility-related procedures (OR 4.12, 95%CI: 2.36-7.57, p &lt; .001) and fertility preservation (OR 1.76, 95%CI: 1.31-2.44, p &lt; .001), having made an informed decision to pursue FSA (OR 1.82, 95%CI: 1.30-2.59, p = .001), clinical encounter with pediatric reproductive subspecialist (OR 3.37, 95%CI: 1.1-10.9, p = .032), and less knowledge regarding family building options (OR 0.47, 95%CI 0.27-0.79, p = .006). Diagnosis, infertility risk, and hormonal evaluation were not associated with FSA completion. Conclusions: Among emerging adult survivors, psychosocial factors associated with FSA completion include developmental milestones and knowledge of reproductive health. Clinical encounters with pediatric reproductive subspecialists may provide an opportunity for survivors to learn about and receive referrals to a fertility clinic. Psychoeducation is warranted to support survivors’ pursuit of FSA. Integration and consideration of survivor development and knowledge in these clinical encounters should potentiate optimal uptake of FSA.

Type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma (pLGG): Reversible decreases in growth velocity in the phase 2 FIREFLY-1 trial.

10036 Background: Tovorafenib is an investigational, selective, CNS-penetrant, type II RAF inhibitor. Results from the ongoing FIREFLY-1 (NCT04775485) phase 2 study (1) in BRAF-altered pLGG showed clinically meaningful tumor responses and a manageable safety profile with tovorafenib monotherapy. Decreased growth velocity (GV) was observed; this is an update on changes in GV in skeletally immature children receiving tovorafenib. Methods: A planned safety analysis was completed on August 8, 2023 and included 137 patients (Arm 1: 77 &amp; Arm 2: 60) treated with ≥1 dose of tovorafenib in FIREFLY-1. This report provides additional follow-up on all cases of decreased growth velocity (GV), an adverse event of special interest (AESI), reported to the Sponsor’s global safety database (GSDB) as of January 19, 2024. Results: Decreased GV was reported in 40 (29.2%) of 137 patients; 26 (19%) had GV reduction ≥50% from baseline (BL). Of those with decreased GV, 30 (75.0%) had pre-existing neuromuscular or endocrine comorbidities that may affect normal growth, including 6 (15%) with precocious puberty being treated with a gonadotropin-releasing hormone analogue, and 9 (22.5%) with BL heights 2 standard deviations above or below average for age and sex. Nineteen of the 40 patients with this AESI had on-treatment bone age assessments; none showed advancement of bone age from BL or premature closure of growth plates. No osteopenia or abnormal fractures were reported. Of the 35 patients with growth hormone (GH) testing, only 2 had signs of GH deficiency (both had optic pathway tumors; 1 had GH deficiency at BL, the other, a new tumor-associated GH deficiency). Post-treatment heights ≥3 months off treatment were reported for 10 of 40 patients who had interrupted or discontinued treatment for any reason (mean follow up: 5.8 months), including 2 (1.5%) permanent discontinuations and 3 (2.2%) interruptions due to decreased GV. All 10 showed post-treatment recovery in annualized GV (AGV) (average on-treatment AGV 1.1 cm/y vs. average post-treatment AGV 8 cm/y), in some cases exceeding expected average AGV for age. One additional 4-year-old boy with on-treatment AGV of 1.2 cm/y had an off-treatment AGV of 12.3 cm/y after 2 months of off-treatment follow-up. Decreased GV was reported to the GSDB for 5 (11.4%) of 44 patients who received above the maximum dose of tovorafenib used in FIREFLY-1 in an ongoing investigator-initiated study. Four of the 5 patients from this study had ≥3 months of off-treatment follow-up reported; all 4 showed evidence of GV recovery. Conclusions: Decreased GV has been observed in patients treated with tovorafenib. Early follow-up data from patients whose treatment was interrupted show consistent evidence for GV recovery and preservation of growth potential on bone age studies. 1. Kilburn LK, et al. Nat Med.2023. Clinical trial information: NCT04775485 .

Identification of important symptoms and diagnostic hypothyroidism patients using machine learning algorithms

Background: Hypothyroidism is one of the most common endocrine diseases. It is, however, usually challenging for physicians to diagnose due to nonspecific symptoms. The usual procedure for diagnosis of Hypothyroidism is a blood test. In recent years, machine learning algorithms have proved to be powerful tools in medicine due to their diagnostic accuracy. In this study, the authors aim to predict and identify the most important symptoms of Hypothyroidism using machine learning algorithms. Method: In this cross-sectional, single-center study, 1296 individuals who visited an endocrinologist for the first time with symptoms of Hypothyroidism were studied, 676 of whom were identified as patients through thyroid-stimulating hormone testing. The outcome was binary (with Hypothyroidism /without Hypothyroidism). In a comparative analysis, random forest, decision tree, and logistic regression methods were used to diagnose primary Hypothyroidism. Results: Symptoms such as tiredness, unusual cold feeling, yellow skin (jaundice), cold hands and feet, numbness of hands, loss of appetite, and weight Hypothyroidism gain were recognized as the most important symptoms in identifying Hypothyroidism. Among the studied algorithms, random forest had the best performance in identifying these symptoms (accuracy=0.83, kappa=0.46, sensitivity=0.88, specificity=0.88). Conclusions: The findings suggest that machine learning methods can identify Hypothyroidism patients who show relatively simple symptoms with acceptable accuracy without the need for a blood test. Greater familiarity and utilization of such methods by physicians may, therefore, reduce the expense and stress burden of clinical testing.

Indicaciones e interpretación de los estudios analíticos hormonales de la corteza suprarrenal

In the adrenal cortex, entities ranging from benign diseases such as adrenocortical adenomas to malignant diseases such as adrenocortical carcinoma or adrenal metastases can be found. Regarding functionality, the spectrum of diseases varies widely: from non-functioning adenomas, patients with autonomous cortisol secretion (ACS), primary hyperaldosteronism (PHA), ACTH-independent Cushing's syndrome, excess secretion of sex hormones, congenital adrenal hyperplasia (CAH), and adrenal insufficiency (AI). A hormonal study is essential for the proper characterization of these disorders. Baseline hormonal tests and functional studies are both necessary in some cases to reach the definitive diagnosis. The test of choice for Cushing's syndrome screening is urinary free cortisol, late-night salivary cortisol, or a 1mg dexamethasone suppression test (DST). For ACS, it is a DST. For PAH, it is calculation of the plasma aldosterone concentration and renin activity or concentration ratio. For AI, it is the determination of plasma cortisol between 8:00 and 9:00 a.m. and after cosyntropin stimulation. Lastly, for CAH, it is the measurement of plasma 17-hydroxyprogesterone.

A Case Report of Integrative Treatment in a Type 2 Diabetes Patient with Multiple Symptoms and Evaluation Using Continuous Glucose Monitoring

Introduction: We describe the effects of Sosiho-tang decoction and insulin combination therapy, as well as the effect of integrated traditional Korean medicine therapy, using continuous glucose monitoring (CGM) in a diabetic patient complaining of a range of diabetic symptoms.Case report: A 24-year-old female presented with symptoms of diabetes, including weight loss, thirst, and polyuria, and was diagnosed with type 2 diabetes through blood tests, endocrine tests, and autoantibody tests. During hospitalization, the patient received insulin therapy and Sosiho-tang decoction concurrently, achieving normal blood glucose levels. After discharge, adhering to the Sosiho-tang decoction and CGM enabled the insulin dosage to be gradually reduced while maintaining normal blood glucose levels.Conclusion: Combination therapy with insulin and Sosiho-tang rapidly reduced hyperglycemia in the short term. CGM post-discharge allowed for observation of the patient’s blood glucose levels. Ultimately, Sosiho-tang medication lowered blood glucose levels, reduced insulin requirements, and facilitated a reduction in the insulin dosage.