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SA Journal of Radiology 2024Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic...
UNLABELLED
Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome.
CONTRIBUTION
Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
PubMed: 38840825
DOI: 10.4102/sajr.v28i1.2877 -
Journal of Clinical Research in... Jun 2024Central precocious puberty is treated with long-acting GnRH analogues. Some adult patients undergoing GnRHa treatment experienced prolonged QT syndrome, which is...
INTRODUCTION
Central precocious puberty is treated with long-acting GnRH analogues. Some adult patients undergoing GnRHa treatment experienced prolonged QT syndrome, which is associated with an increased risk of serious cardiac events such as myocardial infarction, stroke, arrhythmias, and sudden cardiac death.
METHOD
Seventy-four patients, aged between 5 and 11 years and diagnosed with central precocious puberty but with no other concomitant disease or medication use, underwent electrocardiogram assessment. They had been receiving 3.75 mg leuprolide acetate (Lucrin® Depot) injections every 28 days for at least three months.
RESULTS
The electrocardiograms of all patients showed a QTc interval within normal limits, consistent with the data of healthy Turkish children of the same age and gender. No other pathological physical examination or ECG findings were observed. Furthermore, there was no significant difference in QTc interval in relation to age, anthropometric data, or the duration or cumulative dose of the treatment.
CONCLUSION
The study found no correlation between QTc interval values and age, treatment duration, total cumulative dose, and anthropometric data. The findings suggest that cardiovascular adverse events associated with GnRHa may be related to age and other underlying physiopathological conditions rather than the drug.
PubMed: 38828891
DOI: 10.4274/jcrpe.galenos.2024.2024-2-8 -
Journal of Clinical Research in... May 2024A rarely reported phenomenon of rapid-tempo puberty in which the physical changes of puberty and testosterone levels increase very rapidly has not been reported outside...
A rarely reported phenomenon of rapid-tempo puberty in which the physical changes of puberty and testosterone levels increase very rapidly has not been reported outside apart from in two reviews. The resulting rapid advancement of skeletal age causes early completion of growth with shorter adult stature than expected. This appears to be genetic given its occurrence in the present report in two families, one with three brothers, one with two. We also describe potential treatments and found for the youngest that early initiation of standard therapy preserved or reclaimed adult height (AH) potential. The foreshortened AH in this situation involves rapidly advancing puberty resulting from high circulating testosterone levels leading to rapid advance in skeletal age. This was recognized earlier among younger brothers and treatment with gonadotropin-releasing analogues, growth hormone (GH) and/or aromatase inhibitor therapy (AIT) was tried. Two brothers in family A and family B were treated. Case 5 started treatment early enough so his AH was within target height (mid-parental height) range. Cases 2, 3, 4 were tried on GH and/or AIT with outcomes suggesting benefit. The prevalence and mechanism of rapid-tempo puberty requires further study. Furthermore, as illustrated by two of the current cases, this phenomenon may have a heightened prevalence, or at least may occur, in children previously diagnosed with constitutional delay of growth, underscoring the need to be cautious in assurance of a normal AH outcomes in this population, based on data from a single assessment.
Topics: Humans; Male; Body Height; Child; Puberty; Growth Disorders; Adolescent; Female; Human Growth Hormone; Adult; Aromatase Inhibitors; Puberty, Precocious; Gonadotropin-Releasing Hormone; Testosterone
PubMed: 38828521
DOI: 10.4274/jcrpe.galenos.2024.2024-1-13 -
Fertility and Sterility May 2024To assess whether the use of assisted reproductive technology for conception is associated with imprinting disorders in children and the impact of parental factors...
OBJECTIVE
To assess whether the use of assisted reproductive technology for conception is associated with imprinting disorders in children and the impact of parental factors related to infertility.
DESIGN
A nationwide register-based cohort study.
SUBJECTS
All liveborn singletons in Sweden (N = 2 084 127) between 1997-2017 with follow-up to December 31, 2018.
EXPOSURE
The use of specific methods implemented in the assisted reproductive technology MAIN OUTCOME MEASURES: The International Classification of Diseases version 10 was used to identify three distinct imprinting disorder groups: Prader-Willi/Silver-Russell syndrome, Beckwith-Wiedemann syndrome, and central precocious puberty. The Cox model combined with inverse probability treatment weights were used to estimate weighted hazard ratio (wHR) with 95% confidence interval (CI), accounting for multiple confounders.
RESULTS
A total of 1044 children were diagnosed with the disorders of interest, and 52 of them were conceived with assisted reproductive technology. The overall risk of being diagnosed with any of the studied imprinting disorders was elevated in children conceived with ART compared to all other children (HR 1.84, 95% CI: 1.38-2.45). After adjusting for parental background factors, the association was partially attenuated (wHR 1.50, 95% CI: 0.97-2.32), but remained also in the weighted comparison restricted to children of couples with known infertility (wHR 1.52, 95% CI: 1.05-2.21). For the specific diagnoses of Prader-Willi/Silver-Russell syndrome and Beckwith-Wiedemann syndrome, compared to children of couples with known infertility, children conceived with assisted reproductive technology showed a small excess risk, which could not be distinguished from the null (wHR 1.56 [95% CI: 0.93-2.62] and 1.80 [95% CI: 0.99-3.28], respectively). Further subgroup analysis showed that the combined use of intra-cytoplasmic sperm injection and cryopreserved embryos was associated with higher risk of both Prader-Willi/Silver-Russell syndrome (wHR 4.60, 95% CI: 1.72-12.28) and Beckwith-Wiedemann syndrome (wHR 6.69, 95% CI: 2.09-21.45). The number of central precocious puberty cases in children conceived with assisted reproductive technology was too small (N=3) to make any meaningful inference.
CONCLUSION
The combined use of intra-cytoplasmic sperm injection and cryopreserved embryos was associated with small elevated risks of Prader-Willi/Silver-Russell syndrome and Beckwith-Wiedemann syndrome in children, independent of parental factors related to infertlity.
PubMed: 38825304
DOI: 10.1016/j.fertnstert.2024.05.168 -
Indian Journal of Pharmacology Mar 2024Nicolau syndrome (NS) is a rare and unpredictable adverse reaction that can occur after the administration of certain medications. A 9-year-old girl, accompanied by her...
Nicolau syndrome (NS) is a rare and unpredictable adverse reaction that can occur after the administration of certain medications. A 9-year-old girl, accompanied by her father, visited the outpatient dermatology clinic with complaints of wounds on both upper arms. Upon reviewing her medical history, it was discovered that she had been receiving leuprolide for precocious puberty, and the symptoms began after the last two injections. The patient experienced pain during the leuprolide injection, and redness and swelling were noticed in the injection area on the same day. A few days later, the redness turned into ulcers. The fact that the development of NS cannot be detected in advance and the risk of rapid progression of tissue necrosis make disease management difficult. The prognosis of NS significantly depends on the patient, and when a developing lesion is noticed early, it is crucial to minimize the risk of complications.
Topics: Humans; Leuprolide; Female; Child; Nicolau Syndrome; Puberty, Precocious; Upper Extremity
PubMed: 38808926
DOI: 10.4103/ijp.ijp_743_23 -
Aging Cell May 2024Recent studies have demonstrated the remarkable potential of early life intervention strategies at influencing the course of postnatal development, thereby offering...
Recent studies have demonstrated the remarkable potential of early life intervention strategies at influencing the course of postnatal development, thereby offering exciting possibilities for enhancing longevity and improving overall health. Metformin (MF), an FDA-approved medication for type II diabetes mellitus, has recently gained attention for its promising anti-aging properties, acting as a calorie restriction mimetic, and delaying precocious puberty. Additionally, trodusquemine (MSI-1436), an investigational drug, has been shown to combat obesity and metabolic disorders by inhibiting the enzyme protein tyrosine phosphatase 1b (Ptp1b), consequently reducing hepatic lipogenesis and counteracting insulin and leptin resistance. In this study, we aimed to further explore the effects of these compounds on young, developing mice to uncover biomolecular signatures that are central to liver metabolic processes. We found that MSI-1436 more potently alters mRNA and miRNA expression in the liver compared with MF, with bioinformatic analysis suggesting that cohorts of differentially expressed miRNAs inhibit the action of phosphoinositide 3-kinase (Pi3k), protein kinase B (Akt), and mammalian target of rapamycin (Mtor) to regulate the downstream processes of de novo lipogenesis, fatty acid oxidation, very-low-density lipoprotein transport, and cholesterol biosynthesis and efflux. In summary, our study demonstrates that administering these compounds during the postnatal window metabolically reprograms the liver through induction of potent epigenetic changes in the transcriptome, potentially forestalling the onset of age-related diseases and enhancing longevity. Future studies are necessary to determine the impacts on lifespan and overall quality of life.
PubMed: 38798180
DOI: 10.1111/acel.14227 -
IScience Jun 2024Precocious puberty, a pediatric endocrine disorder classified as central precocious puberty (CPP) or peripheral precocious puberty (PPP), is influenced by diet, gut...
Precocious puberty, a pediatric endocrine disorder classified as central precocious puberty (CPP) or peripheral precocious puberty (PPP), is influenced by diet, gut microbiota, and metabolites, but the specific mechanisms remain unclear. Our study found that increased alpha-diversity and abundance of short-chain fatty acid-producing bacteria led to elevated levels of luteinizing hormone and follicle-stimulating hormone, contributing to precocious puberty. The integration of specific microbiota and metabolites has potential diagnostic value for precocious puberty. The genus-controlled interaction factor, influenced by complex carbohydrate consumption, mediated a reduction in estradiol levels. Interactions between obesity-related bacteria and metabolites mediated the beneficial effect of seafood in reducing luteinizing hormone levels, reducing the risk of obesity-induced precocious puberty, and preventing progression from PPP to CPP. This study provides valuable insights into the complex interplay between diet, gut microbiota and metabolites in the onset, development and clinical classification of precocious puberty and warrants further investigation.
PubMed: 38784002
DOI: 10.1016/j.isci.2024.109887 -
BMC Pediatrics May 2024Over the decades the trends of early onset of puberty have been observed in children, particularly in girls. Research evidence has reported diet to be among the most...
INTRODUCTION
Over the decades the trends of early onset of puberty have been observed in children, particularly in girls. Research evidence has reported diet to be among the most important risk factors for puberty onset. This study evaluated the association between dietary behavior and puberty in girls.
METHODS
We enrolled 201 girls with the main complaints of breast development as the cases at the Endocrine Department of Nanjing Children's Hospital. The cases were divided into breast development with central priming and breast development without central priming groups and were matched with 223 normal health girls with no breast development (control group). We used the modified Child Eating Behavior Questionnaire (CEBQ) to conduct a face-to-face interview about dietary behavior. Sample t-test or Mann Whitney U test or Chi-square test, the analysis of variance or Kruskal Wallis test, and least significant difference (LSD) were used to compare differences between the groups, Bonferroni was used to correct the p-value, and logistic regression was used to analyze risk factors for puberty onset.
RESULTS
A total of 424 girls participated in this study, among them, 136 were cases with breast development with central priming, 65 were cases with breast development without central priming, and 223 were normal health girls with no breast development. Age of the participants ranged from 4.5 to 9.3 years. There were significant differences in food response (p < 0.001), dietary restriction (p < 0.001), frequencies of vegetable intake (χ = 8.856, p = 0.012), drinking milk (χ = 23.099, p = 0.001), and borderline statistical difference in a total score of unhealthy dietary behavior (p = 0.053) among the cases and controls. However, in the post hoc analysis, these dietary behaviors were significant differences between the girls with breast development with central priming and the control groups. Moreover, girls in the breast development with central priming group had significantly higher bone age (BA), uterine body length, ovarian volume, basal luteinizing hormone (LH), basal follicle-stimulating hormone (FSH), peak LH, peak FSH, estradiol (E2), and free triiodothyronine (FT3) compared to those in the breast development without central priming group. In the multivariate logistic regression, only uterine body length was associated with increased risk of breast development with central priming (OR = 1.516, 95%CI: 1.243-1.850).
CONCLUSION
There were significant differences in dietary behaviors among girls with breast development with central priming and normal health girls with no breast development, and uterine body length was associated with an increasing risk of breast development with central priming among girls with breast development.
Topics: Humans; Female; Child; Feeding Behavior; Puberty; Case-Control Studies; Risk Factors; Child, Preschool; Diet; Puberty, Precocious; Logistic Models; Breast
PubMed: 38773477
DOI: 10.1186/s12887-024-04840-w -
Clinical and Experimental Pediatrics Jun 2024Kisspeptin and delta-like 1 homolog (DLK1) are neuropeptides that reportedly play an important role in pubertal timing by activating and inhibiting the...
BACKGROUND
Kisspeptin and delta-like 1 homolog (DLK1) are neuropeptides that reportedly play an important role in pubertal timing by activating and inhibiting the hypothalamic-pituitary-gonadal axis, respectively. Consequently, serum kisspeptin and DLK1 levels may be novel biomarkers for differentiating between central precocious puberty (CPP) and premature thelarche (PT) in girls and used to monitor CPP treatment.
PURPOSE
To compare baseline serum kisspeptin and DLK1 levels in girls with CPP at diagnosis and after treatment to age-matched girls with PT.
METHODS
This prospective longitudinal study included girls with precocious puberty and girls with PT who experienced breast development before 8 years of age and peak luteinizing hormone levels of ≥6 versus <6 IU/L after a gonadotropin-releasing hormone (GnRH) stimulation test. Serum kisspeptin and DLK1 levels were determined in both groups at baseline and after 6 months of GnRH analog treatment in the CPP group and analyzed by enzyme-linked immunosorbent assay.
RESULTS
The study divided a total of 48 girls into CPP (n=24; mean age, 7.7±0.7 years) and PT (n=24; mean age, 7.4±0.8 years) groups. The baseline median serum kisspeptin levels were 50.5 pg/mL (range, 38.2-77 pg/mL) and 49.5 pg/mL (range, 39.7-67.6 pg/mL), respectively (P=0.89), while the baseline median serum DLK1 levels were 6.5 ng/mL (range, 5.9-7.5 ng/mL) and 6 ng/mL (4.4-14.4 ng/mL), respectively (P=0.68). After 6 months of GnRH analog treatment in the CPP group, the median serum kisspeptin level was lower (46.4 ng/mL; range, 37.1-60 ng/mL) than that at baseline (P=0.002), while the median serum DLK1 level was higher (7 ng/mL; range, 6.7-8.9) than that at baseline (P=0.002).
CONCLUSION
Our findings suggest that baseline serum kisspeptin and DLK1 levels are not reliable biomarkers for differentiating between CPP and PT. However, significant changes in serum kisspeptin and DLK1 levels may be used to monitor CPP treatment.
PubMed: 38772409
DOI: 10.3345/cep.2023.01361 -
Revista Brasileira de Ginecologia E... 2024This study aims to correlate pelvic ultrasound with female puberty and evaluate the usual ultrasound parameters as diagnostic tests for the onset of puberty and, in...
OBJECTIVES
This study aims to correlate pelvic ultrasound with female puberty and evaluate the usual ultrasound parameters as diagnostic tests for the onset of puberty and, in particular, a less studied parameter: the Doppler evaluation of the uterine arteries.
METHODS
Cross-sectional study with girls aged from one to less than eighteen years old, with normal pubertal development, who underwent pelvic ultrasound examination from November 2020 to December 2021. The presence of thelarche was the clinical criterion to distinguish pubescent from non-pubescent girls. The sonographic parameters were evaluated using the ROC curve and the cutoff point defined through the Youden index (J).
RESULTS
60 girls were included in the study. Uterine volume ≥ 2.45mL had a sensitivity of 93%, specificity of 90%, PPV of 90%, NPV of 93% and accuracy of 91% (AUC 0.972) for predicting the onset of puberty. Mean ovarian volume ≥ 1.48mL had a sensitivity of 96%, specificity of 90%, PPV of 90%, NPV of 97% and accuracy of 93% (AUC 0.966). Mean PI ≤ 2.75 had 100% sensitivity, 48% specificity, 62% PPV, 100% NPV and 72% accuracy (AUC 0.756) for predicting the onset of puberty.
CONCLUSION
Pelvic ultrasound proved to be an excellent tool for female pubertal assessment and uterine and ovarian volume, the best ultrasound parameters for detecting the onset of puberty. The PI of the uterine arteries, in this study, although useful in the pubertal evaluation, showed lower accuracy in relation to the uterine and ovarian volume.
Topics: Humans; Female; Cross-Sectional Studies; Child; Puberty; Adolescent; Child, Preschool; Uterus; Infant; Sensitivity and Specificity; Uterine Artery; Ovary; Pelvis; Ultrasonography; ROC Curve
PubMed: 38765514
DOI: 10.61622/rbgo/2024AO05