Hormones-International Journal of Endocrinology and Metabolism最新文献

Aromatase enzyme deficiency (AED) is a rare autosomal recessive disorder caused by mutations in the CYP19A1 gene. This disorder causes an inability to convert androgens into estrogens, resulting in excess androgens and estrogen deficiency. AED is typically diagnosed in female infants, but diagnosis in men is often delayed until adulthood due to late-onset skeletal and metabolic issues. We report the case of a 31-year-old male referred for increased height and bone discomfort. Over the past 6 years, his height had increased by 5 cm, accompanied by leg cramps and bone pain. He had a height of 193 cm, weighed 103 kg, and presented with a eunuchoid body habitus. The patient's height was above/at + 2 SD from target height. Laboratory findings revealed elevated FSH, LH, and testosterone, with undetectable estrogen levels. Serum osteocalcin and alkaline phosphatase were elevated. X-rays showed incomplete epiphyseal fusion. Bone densitometry revealed Z scores of -2 (lumbar spine) and - 2.6 (femoral neck). Genetic testing confirmed a homozygous exon 6 deletion in CYP19A1. The patient was treated with transdermal estradiol (25 µg twice weekly), which normalized estradiol, testosterone, and gonadotropin levels. Epiphyseal fusion occurred within 6 months. Aromatase deficiency in men frequently goes undiagnosed until adulthood. Timely diagnosis is crucial to initiating estrogen treatment early after puberty to prevent skeletal problems linked to this disorder.

Purpose: Increasing levels of infertility in Western countries has drawn ever more scientific attention to the role in this trend of endocrine disruptors, such as bisphenol A, a substance now banned in some cases and some countries. Because this substance has been replaced by the structurally similar bisphenol S (BPS), this study focused on the effects of the latter on early mice embryo development.

Methods: Cultures of CD1 mice embryos with varying concentrations of BPS were compared with control blank cultures in order to examine the survival rate of embryos according to BPS concentration and culture day.

Results: The administration of BPS at any dose (1, 10, and 100 pg/ml) in cultures of mice embryos led to a significant decrease in their survival rate. The negative effect of BPS was seen to start early (day 1 of experiment), even with the lowest employed dose (1 pg/ml).

Conclusions: This is, to the best of our knowledge, the first study to investigate the impact of BPS on the survival rate of mice embryos. In this study, potential adverse effects of BPS on early CD1 mice embryo development with regard to survival rate have been identified. Dose of BPS, timing of BPS administration, and time duration of exposure play a critical role in the decrease of mice embryo survival rate as compared to control cultures. These findings raise concerns regarding the safety of BPS and highlight the need for further research into the effect of this substance on human embryos.

Purpose: The study aims to investigate the relationship between thyroid-stimulating hormone (TSH) and remnant cholesterol (RC) in euthyroid adults.

Methods: The adults who were recruited for the study had undergone physical examination at Beijing Chao-Yang Hospital. High RC levels were defined as the upper quartile of RC levels in males and females, respectively. The relationship between TSH and RC was assessed using the logistic and linear regression models.

Results: A total of 29,708 adults (14,347 males and 15,361 females) were enrolled in this study. RC ≥ 0.77 mmol/L in males and RC ≥ 0.60 mmol/L in females were defined as high RC levels. With increasing serum TSH levels, the percentage of adults with high RC levels increased. The odds ratios (ORs (95% confidence intervals (CIs)) for high RC levels increased as TSH quartiles (Q) rose after full adjustments [males: Q2 1.11 (1.00-1.24), P < 0.05; Q3 1.03 (0.92-1.15), P > 0.05; Q4 1.25 (1.12-1.40), P < 0.001; and females: Q2 1.07 (0.96-1.20), P > 0.05; Q3 1.17 (1.05-1.31), P < 0.01, Q4 1.33 (1.20-1.48), P < 0.001, all P for trend < 0.001], using Q1 as the reference.

Conclusion: Higher TSH levels were independently associated with higher RC levels in euthyroid adults, this underscoring the significance of regulating TSH levels appropriately.

Menarche, the first menstrual period marking the onset of female reproduction, is a milestone of female puberty. The timing of menarche determines the timing of later phases of pubertal maturation in girls and has major implications for health later in life, including behavioral and psychosocial disorders during adolescence and fertility problems and increased risk for certain diseases in adulthood. Over the last few decades, a continuous decline in age at menarche has been noted, with environmental factors contributing to this change in the timing of menarche. However, a genetic component of age at menarche and pubertal onset has been strongly suggested by studies in families and twins wherein up to approximately 80% of the variance in puberty onset can be explained by heritability. Gene association studies have revealed several genetic loci involved in age at menarche, among which LIN28B has emerged as a key regulator of female growth and puberty. LIN28B, a human homolog of Lin28 of C. elegans, is a known RNA-binding protein that regulates let-7 microRNA biogenesis. Genome-wide association studies have identified the association of polymorphisms in the LIN28B gene with age at menarche in several population cohorts worldwide. In this paper, we review the genetic factors contributing to age of menarche, with particular focus on the identified polymorphisms in LIN28B gene.

In this case report, we present a 43-year-old man (XY) with azoospermia and typical male appearance, at Tanner stage 5 of sexual development, who presented with severe colicky abdominal pain accompanied by nausea. A pelvic CT scan revealed a pear-shaped structure in the pelvic cavity, located entirely behind the bladder, measuring 106*44 cm with fluid accumulation inside it, extending into the right inguinal canal. There was also evidence suggesting the formation of the upper and mid-third part of a vagina, terminating in the prostatic gland. The patient underwent laparoscopic surgery for the removal of the uterus and the left gonad. The patient had a uterus with hematometra and a blind vaginal pouch measuring 4 centimeters at the end of the uterus, extending posteriorly behind the bladder to the apex of the prostate, containing old blood. Hormonal analysis showed serum estradiol < 5.0 pmol/L (11-44pg/mL), free testosterone at 1.57 ng/ mL(male reference range: 2.5-20 ng/mL), testosterone at 0.56 ng/mL (2.27-10.30),FSH at 44.8 mIU/L (0.95-11.95 mIU/L), LH at 20.4 mIU/L(0.57-12.07), and DHEA-SO4 at 199.0 µg/mL (139.7-484.4 µg/mL). Currently, the patient is under the care of a urologist and is receiving weekly treatment with hCG medication. He reports normal sexual function, including intercourse, orgasm, erection, and ejaculation.

The prevalence of diabetic foot ulcers (DFUs) is 4 to 10% among people with diabetes mellitus. DFUs are associated with increased morbidity and mortality as well as reduced quality of life and have a significant impact on overall healthcare expenditure. The main predisposing factors for DFU are diabetic neuropathy, peripheral arterial disease, and trauma. The fact that a range of tests can be used to identify patients at risk for DFU often causes confusion among practitioners regarding which screening tests should be implemented in clinical practice. Herein we sought to determine whether tests of somatic nerve function, such as pinprick sensation, thermal (cold/hot) test, ankle reflexes, vibration perception, 10-g monofilament, Ipswich touch test, neuropathy disability score, and nerve conduction studies, predict the development of DFUs. In addition, we examined whether sudomotor function screening tests, such as Neuropad, sympathetic skin response, and other tests, such as elevated plantar pressure or temperature measurements, can be used for DFU screening. If not treated properly, DFUs can have serious consequences, including amputation, early detection and treatment are vital for patient outcomes.

Alzheimer's disease (AD) is a chronic neurogenerative disease that impairs cognition, learning, behavior, and memory. The aberrant accumulation of extracellular amyloid-β (Aβ) plaques is a characteristic of AD. It has been demonstrated that melatonin exerts a significant role in AD prevention and treatment via its antioxidant effects, reducing neuroinflammation, and Aβ. Moreover, studies have shown that physical exercise (PE) is not only a promising non-pharmacological strategy for AD prevention and treatment but can also lead to an increase in melatonin levels. Hence, we hypothesized that PE can contribute to AD prevention and treatment by increasing melatonin levels and reducing Aβ accumulation, enhancing Aβ clearance, and modulating inflammation in these patients. However, the mechanisms by which PE increases melatonin synthesis and the cellular and molecular mechanisms of actions of melatonin in AD prevention and treatment have not to date been completely understood. Therefore, in the future, further investigations are required to elucidate the underlying mechanisms, optimize intervention strategies, identify biomarkers, and validate findings through clinical trials. Understanding the potential of exercise-induced melatonin in AD holds promise for innovative therapeutic interventions and future directions in AD research.

Purpose: This study explored the clinical value of long non-coding RNA small nucleolar RNA host gene 14 (SNHG14) in diabetic kidney disease (DKD) and the mechanism of renal tubular injury.

Methods: Patients with DKD, type 2 diabetes mellitus (T2DM) and healthy individuals (HVs) were included, as well as the human proximal tubular epithelial cell line (HK-2) induced by high glucose was also included. The mRNA levels of SNHG14 in the serum and cells were detected using RT-qPCR. Diagnostic significance was examined using receiver operating characteristic (ROC) analysis. A commercial test kit, flow cytometry, and enzyme-linked immunosorbent assays were employed to assess reactive oxygen species (ROS) production, apoptosis, inflammatory factor secretion, and extracellular matrix protein levels in HK-2 cells. The dual-luciferase reporter assay and RNA immunoprecipitation were used to validate miR-483-5p concerning SNHG14 or histone deacetylase 4 (HDAC4).

Results: SNHG14 and HDAC4 levels were elevated in the serum of DKD patients and HG-induced HK-2 cells, while miR-483-5p levels were decreased (P < 0.001). SNHG14 increased HDAC4 levels by sponging miR-483-5p. Elevated SNHG14 levels significantly differentiated DKD patients from HVs (AUC = 0.944) and T2DM (AUC = 0.867). Silencing of SNHG14 alleviated HG-induced ROS production and apoptosis as well as the over-secretion of inflammatory factors and extracellular matrix proteins; however, this alleviation was typically suppressed by low expression of miR-483-5p (P < 0.001). Elevated miR-483-5p alleviates HG-induced renal tubular injury, but this alleviation is suppressed by HDAC4 overexpression.

Conclusion: In summary, suppression of SNHG14 has been shown in our study to mitigate renal tubular injury in DKD by regulating apoptosis, oxidative stress, inflammation, and fibrosis through the miR-483-5p/HDAC4 axis.