-
Pituitary Dec 2022Giant prolactinoma (GP) in childhood and adolescence is a rare entity with scarce literature. We aimed to describe clinical features, biochemistry, radiology, genetics,...
PURPOSE
Giant prolactinoma (GP) in childhood and adolescence is a rare entity with scarce literature. We aimed to describe clinical features, biochemistry, radiology, genetics, management, and outcome in pediatric (≤ 20 years) GP.
METHODS
Retrospective record review of 18 pediatric GP patients from our center and systematic review including these and 77 from the literature (total cohort: 95).
RESULTS
GP constituted 20% of our pediatric prolactinoma cohort. In the total cohort (age: 15.4 ± 3.5 years), the majority (77, 82.8%) were males. Mass effect symptoms (88.6%), and pubertal delay/arrest in males (82.1%) were frequent. Median basal prolactin was 8649 (3246-17,532) ng/ml and the maximum tumor dimension was 5.5 ± 1.5 cm. MEN1 and AIP mutations were noted in 7 (21.9%) and 6 (18.8%) patients, respectively. Males with central hypogonadism had baseline bi-testicular volume of 20.2 ± 8.4 cc, lower LH than FSH (-2.04 ± 0.9 vs. -0.7 ± 1.6 SDS, p = 0.0075), and mostly, normal inhibin B. Majority (49/76, 64.5%) received dopamine agonist (DA) as first-line treatment with additional therapy in 35% (17/49). DA monotherapy arm had less frequent central hypothyroidism (42.9% vs 87.1%, p = 0.002) and central adrenal insufficiency (7.1% vs 66.7%, p = 0.0003) than multimodal therapy. A smaller tumor dimension (4.7 vs. 5.7 cm, p = 0.04) was associated with normoprolactinemia on DA monotherapy and AIP mutations (33.3% vs. nil, p = 0.02) with multimodal therapy.
CONCLUSION
GP is characterized by male predominance with frequent delay/arrest of puberty (82%), but relative sparing of the FSH-inhibin B axis in boys. DA monotherapy may be preferred as the first-line therapy in pediatric GP.
Topics: Adolescent; Child; Female; Humans; Male; Dopamine Agonists; Follicle Stimulating Hormone; Pituitary Neoplasms; Prolactin; Prolactinoma; Retrospective Studies
PubMed: 35851929
DOI: 10.1007/s11102-022-01250-y -
Frontiers in Endocrinology 2022Klinefelter syndrome (KS) is the most common aneuploidy in men and has long-term sequelae on health and wellbeing. KS is a chronic, lifelong condition and...
Klinefelter syndrome (KS) is the most common aneuploidy in men and has long-term sequelae on health and wellbeing. KS is a chronic, lifelong condition and adolescents/young adults (AYAs) with KS face challenges in transitioning from pediatric to adult-oriented services. Discontinuity of care contributes to poor outcomes for health and wellbeing and transition programs for KS are lacking. We aimed to develop and test a mobile health tool (KS Transition Passport) to educate patients about KS, encourage self-management and support successful transition to adult-oriented care. First, we conducted a retrospective chart review and patient survey to examine KS transition at a university hospital. Second, we conducted a systematic scoping review of the literature on AYAs with KS. Last, we developed a mobile health transition passport and evaluated it with patient support groups. Participants evaluated the tool using the System Usability Scale and Patient Education Materials Assessment Tool (PEMAT). Chart review identified 21 AYAs diagnosed between 3.9-16.8 years-old (median 10.2 years). The survey revealed only 4/10 (40%) were on testosterone therapy and fewer (3/10, 30%) had regular medical care. The scoping review identified 21 relevant articles highlighting key aspects of care for AYAs with KS. An interprofessional team developed the mobile-health KS transition passport using an iterative process. Support group members (n=35) rated passport usability as 'ok' to 'good' (70 ± 20, median 73.5/100). Of PEMAT dimensions, 5/6 were deemed 'high quality' (86-90/100) and participants knew what to do with the information (actionability = 83/100). In conclusion, many patients with KS appear to have gaps in transition to adult-oriented care. Iterative development of a KS transition passport produced a mobile health tool that was usable, understandable and had high ratings for actionability.
Topics: Adolescent; Child; Child, Preschool; Chronic Disease; Health Transition; Humans; Klinefelter Syndrome; Male; Puberty; Retrospective Studies; Telemedicine; Young Adult
PubMed: 35813640
DOI: 10.3389/fendo.2022.909830 -
Cureus May 2022Polycystic ovarian syndrome (PCOS) is a multi-system endocrinopathy that affects women of reproductive age. Due to features that coincide with puberty, it frequently... (Review)
Review
Polycystic ovarian syndrome (PCOS) is a multi-system endocrinopathy that affects women of reproductive age. Due to features that coincide with puberty, it frequently remains undiagnosed in adolescent females. The lack of evidence on management alternatives has resulted in significant variation in practice. This systematic review evaluated the therapeutic advantages and adverse effects of a regularly used therapy option, combined oral contraceptive pills (COC/OCP) with spironolactone (SP), a newer alternative that may be used alone or in conjunction with other drugs to treat adolescent PCOS. A literature search was conducted using PubMed, PubMed Central, Scopus, and Google Scholar. It was restricted to studies published in English between 2021 and 2011 that discussed the management of adolescent PCOS with COC, SP, or both. The systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. Two reviewers independently examined the content of the included studies using appropriate quality assessment tools. Four meta-analyses, four randomized controlled trials (RCTs), and one traditional review were found to be eligible. After extensive analysis, we concluded that SP, alone or in combination, is far safer than COC. However, COC treats more PCOS-associated symptoms than SP, including acne and menstrual irregularities, while also providing contraceptive benefits. However, SP monotherapy is cardioprotective and therapeutic when combined with other drugs. Long-term COC use has been linked to an increased risk of venous thromboembolism, hypertension, dyslipidemia, low-density lipoprotein (LDL) elevation, dysglycemia, and cancer in women.
PubMed: 35774693
DOI: 10.7759/cureus.25340 -
Journal of Human Hypertension Jan 2023Hypertensive disorders of pregnancy (HDP) are a major cause of maternal and offspring morbidity and mortality worldwide. Several studies in recent years have focused on... (Meta-Analysis)
Meta-Analysis Review
Hypertensive disorders of pregnancy (HDP) are a major cause of maternal and offspring morbidity and mortality worldwide. Several studies in recent years have focused on the link between HDP and pubertal development in offspring. The goal of this study was to synthesize the published literature on the effect of HDP on pubertal development in offspring by a systematic review and meta-analysis (PROSPERO 2021: CRD42020148736). A systematic literature search of several databases was conducted through December 2021, focusing on studies reporting pubertal development in offspring of women with and without HDP exposure. Primary outcomes of interest included offspring body mass index (BMI), height, waist and hip circumference, fat mass, pubarche, thelarche, and age at menarche. A total of 21 studies were finally included. Significantly higher values of BMI (SMD: 0.16 [0.11, 0.22]; p < 0.01) and waist circumference (SMD: 0.21 [0.14, 0.29]; p < 0.01) were found in offspring exposed to maternal HDP. In addition, a tendency of the early development of secondary sexual characteristics only in daughters was presented in offspring whose mothers were diagnosed with HDP. The findings imply a possible effect of HDP on pubertal development in offspring, especially for their BMI and waist circumference, which highlights the importance of focusing on adolescent developmental abnormalities in offspring exposed to HDP.
Topics: Adolescent; Female; Humans; Pregnancy; Body Mass Index; Hypertension, Pregnancy-Induced; Male; Puberty; Waist Circumference; Prenatal Exposure Delayed Effects
PubMed: 35739340
DOI: 10.1038/s41371-022-00715-8 -
Frontiers in Pediatrics 2022To determine the relationship between childhood overweight/obesity and early puberty in both boys and girls. Specifically, this is the first time to conduct a...
PURPOSE
To determine the relationship between childhood overweight/obesity and early puberty in both boys and girls. Specifically, this is the first time to conduct a meta-analysis of the relationship between childhood overweight/obesity and early puberty in boys.
METHODS
Relevant studies were identified from PubMed, Web of Science, and EMBASE searches. The exposure of interest was overweight/obesity in childhood. Childhood was defined internationally as the age range of 0-18 years. The overall risk estimates were pooled using random effects models. Subgroup and sensitivity analyses were performed to explore possible sources of heterogeneity and to assess the robustness of the results.
RESULTS
A total of 10 studies involving 13,338 girls and 12,796 boys were included. Results showed that childhood overweight/obesity were associated with a significantly higher risk of early puberty in girls [odds ratio (OR): 2.22, 95% CI: 1.65-2.99]. Although without statistical significance, a higher risk of early puberty was also found in boys who were overweight/obese in childhood (OR: 1.29, 95% CI: 0.98-1.70). Heterogeneity in the risk estimates of early puberty was partially explained by study design, sample size, follow-up duration, definitions of early puberty and confounders controlled. Sensitivity analyses validated the robustness of the findings.
CONCLUSIONS
Our findings showed that for girls the associate between overweight/obesity and early puberty is definite or strong whereas for males, such an association is possible, prompting that future studies need to further explore the possible relationship between overweight/obesity and early puberty in boys.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021264649, PROSPERO CRD42021264649.
PubMed: 35722495
DOI: 10.3389/fped.2022.795596 -
Reproductive Health Jun 2022Globally, experiences of menarche and subsequent menstruation are embedded in social and cultural beliefs, norms and practices. Menarche is an important developmental... (Review)
Review
BACKGROUND
Globally, experiences of menarche and subsequent menstruation are embedded in social and cultural beliefs, norms and practices. Menarche is an important developmental milestone in sexual and reproductive health (SRH) for females. Menarche is intertwined with socio-cultural norms, beliefs and practices, which can impact on women's ability to manage menstruation with dignity. This paper reviews the social and cultural factors that affect women's ability to effectively manage their menstrual health and hygiene (MHH) in Pacific Island Countries and Territories (PICTs).
METHODS
A scoping review was conducted following PRISMA scoping review guidelines and inclusion/exclusion criteria. An online search was conducted for peer-reviewed publications in Medline/OVID; Medline/PubMED; PsycINFO; CINAHL; Scopus and JSTOR, and Google Scholar. A search for grey literature was conducted in Google Scholar and websites of international and local organizations. Experts in the field also contributed additional references. Extracted data were summarised in an Excel spreadsheet. Searches were conducted between May and June, 2019, and then repeated in July, 2020.
RESULTS
A total of 11 studies were included; 10 qualitative and one mixed methods study. Studies were conducted in Melanesian (n = 9), Polynesian (n = 1) and Micronesian (n = 1) PICTs. All 11 studies reported elements of societal and personal factors; ten studies reported evidence relating to interpersonal factors; nine studies reported elements relating to environmental factors; and two studies presented evidence linked to biological factors. Managing menstrual health with dignity is challenging for many women and girls because menstruation is associated with menstrual taboos and shame.
CONCLUSION
This review found that the MHH experiences of women in PICTs are affected by social and cultural beliefs, norms and practices. Beliefs, norms and practices about menarche need to be incorporated in SRH planning, programs and education in order to be relevant to diverse village and urban settings.
Topics: Female; Humans; Menarche; Menstruation; Pacific Islands; Reproductive Health; Women's Health
PubMed: 35655221
DOI: 10.1186/s12978-022-01398-7 -
Journal of Pediatric Gastroenterology... Aug 2022Phase angle (PhA), a directly-measured bioelectrical impedance analysis variable, is suggested to be a proxy of body cell mass as well as extracellular/intracellular...
Phase angle (PhA), a directly-measured bioelectrical impedance analysis variable, is suggested to be a proxy of body cell mass as well as extracellular/intracellular water ratio, and is related to cellular integrity and functions. The aim of this systematic review was to evaluate PhA in healthy youths in relation to sex, age, weight status, physical fitness, and sports activities. A systematic literature search (preferred reporting items for systematic reviews and meta-analyses criteria) until January 2022 was performed using PubMed, Embase, Scopus, and Web of Science regarding studies on PhA in healthy children and adolescents 4-18 years of age. Quality was assessed according to the National Institute of Health. After removing duplicates and studies not fulfilling the inclusion criteria, 22 cross-sectional and 1 longitudinal were considered appropriate. As for quality, 14 articles were rated fair and 9 good. Ten studies found that PhA increases with age: the increase was more marked after puberty, whereas changes in younger subjects are by far less defined. A clear sex difference was found in adolescents, likely due to pubertal development. Limited evidence suggests that PhA increases in participants with very high BMI. Limited data were reported on physically active youths without convincing findings. Positive associations of PhA with physical fitness and fat-free mass were found in few studies. In conclusion, partial and limited evidence suggests that changes in PhA over the first 2 decades of life reflect modification in body composition and fat-free mass composition. Further studies are needed for confirming PhA as a relevant marker of nutritional status in youths.
Topics: Adolescent; Biomarkers; Body Composition; Child; Cross-Sectional Studies; Electric Impedance; Female; Humans; Male; Nutritional Status
PubMed: 35653386
DOI: 10.1097/MPG.0000000000003488 -
Open Access Journal of Sports Medicine 2022To determine the effects of maturation stage (eg, classified in the same intervention protocol as early-, and late-mature) on linear sprinting speed adaptations to... (Review)
Review
PURPOSE
To determine the effects of maturation stage (eg, classified in the same intervention protocol as early-, and late-mature) on linear sprinting speed adaptations to plyometric jump training (PJT) in youth (aged <18 years) male team sports players.
PATIENTS AND METHODS
Eligibility criteria was determined based on PICOS: (P) healthy youth male team sport players classified in the same intervention protocol in ≥2 maturation-related categories, based on a recognized maturation stage-determination method, including (but not limited to) Tanner stage; peak height velocity (eg, Mirwald method); radiography-based method (eg, Fels method); (I) athletes exposed to PJT with a minimum of 4 weeks duration; (C) athletes non-exposed to PJT (non-dedicated intervention, ie, only field-based regular training) or performing a parallel intervention not-related with PJT organized by maturation levels; (O) sprinting speed (eg, time, maximal sprint speed) measured in any linear sprint test trajectories before and after the intervention; (S) only randomized controlled and/or parallel trials. Searches were conducted on December 2021 in EMBASE, PubMed, Scopus, SPORTDiscus and Web of Science, restricted to Portuguese, Spanish and English languages, with no restrictions regarding publication date, and no filters applied. The PEDro scale was used to assess the risk of bias in the included studies. Meta-analysis was computed using the inverse variance random-effects model. The significance level was set at p < 0.05.
RESULTS
The search identified 1219 titles. From those, four studies were selected for qualitative and quantitative synthesis. Four studies provided data for sprinting performance, involving 10 experimental and 8 control groups showing a small effect of trained participants on sprinting performance (ES = 0.31; p = 0.064; I2 = 41.3%) when compared to controls. No significant moderator effect was noted for somatic maturity (p = 0.473 between groups).
CONCLUSION
PJT had no significant effect on sprinting performance, although the inclusion criteria partially may explain that.
PubMed: 35586483
DOI: 10.2147/OAJSM.S283662 -
Clinical Endocrinology Mar 2023Selective deficiency of β-subunit of luteinizing hormone (LHB) is a rare disease with scarce data on its characteristics.
CONTEXT
Selective deficiency of β-subunit of luteinizing hormone (LHB) is a rare disease with scarce data on its characteristics.
OBJECTIVES
To describe a male with LHB deficiency and systematically review the literature.
DESIGN AND PATIENTS
Description of a male patient with LHB deficiency and a systematic review of LHB deficiency patients published to date (10 males and 3 females) as per PRISMA guidelines.
RESULTS
A 36-year-old Asian Indian male presented with infertility. On evaluation, he had sexual maturity of Tanner's stage 3, low testosterone (0.23 ng/ml), low LH (0.44 mIU/ml), high follicle-stimulating hormone (FSH, 22.4 mIU/ml), and a novel homozygous missense likely pathogenic variant (p.Cys46Arg) in LHB. In the molecular dynamics simulation study, this variant interferes with heterodimerization of alpha-beta subunits. Eleven males with pathogenic variants in LHB reported to date, presented at a median age of 29 (17-38) years, most commonly with delayed puberty. Clinical and biochemical profiles were similar to those of our patient. In the majority, testosterone monotherapy modestly increased testicular volume whereas human chorionic gonadotropin (hCG) monotherapy also improved spermatogenesis. In females, oligomenorrhoea after spontaneous menarche was the most common manifestation. Ten pathogenic/likely pathogenic variants (three in-frame deletions, three missense, two splice-site, one nonsense, and one frameshift variants) have been reported in nine index patients.
CONCLUSION
We report a novel likely pathogenic LHB variant in an Asian Indian patient. The typical phenotype in male patients with LHB deficiency is delayed puberty with low testosterone, low LH, and normal to high FSH and hCG monotherapy being the best therapeutic option.
Topics: Female; Humans; Male; Adult; Puberty, Delayed; Luteinizing Hormone; Chorionic Gonadotropin; Follicle Stimulating Hormone; Testosterone; Pituitary Diseases
PubMed: 35470463
DOI: 10.1111/cen.14749 -
Human Reproduction Update Aug 2022Globally, the ages at pubertal onset for girls and boys have been decreasing during recent decades, partly attributed to excess body fat accumulation. However, a growing... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Globally, the ages at pubertal onset for girls and boys have been decreasing during recent decades, partly attributed to excess body fat accumulation. However, a growing body of literature has recognized that endocrine disrupting chemicals (EDCs) may play an important role in this global trend, but the association has not yet been fully established.
OBJECTIVE AND RATIONALE
EDCs can interfere with normal hormone function and metabolism and play a role in pubertal onset. We aimed to systematically identify and evaluate the current evidence on the timing of pubertal onset in girls and boys following prenatal or postnatal exposures to xenobiotic EDCs.
SEARCH METHODS
Following PRISMA guidelines, we performed a systematic literature search of original peer-reviewed publications in the PubMed database through a block search approach using a combination of index MeSH and free text search terms. Publications were considered if they covered biomarkers of prenatal or postnatal exposures to xenobiotic EDCs (European Commission's list of category 1 EDCs) measured in maternal or child biospecimen and pubertal onset defined by the progression of the following milestones (and assessed in terms of the following measures): menarche (age), thelarche (Tanner staging) and pubarche (Tanner staging), in girls, and genital stage (Tanner staging), testicular volume (ml) and pubarche (Tanner staging), in boys.
OUTCOMES
The literature search resulted in 703 references, of which we identified 52 publications fulfilling the eligibility criteria for the qualitative trend synthesis and 23 publications for the meta-analysis. The qualitative trend synthesis provided data on 103 combinations of associations between prenatal or postnatal exposure to EDC compounds groups and puberty outcomes and the meta-analysis enabled 18 summary risk estimates of meta-associations.
WIDER IMPLICATIONS
Statistically significant associations in the qualitative trend synthesis suggested that postnatal exposure to phthalates may be associated with earlier thelarche and later pubarche. However, we did not find consistent evidence in the meta-analysis for associations between timing of pubertal onset in girls and boys and exposures to any of the studied xenobiotic EDCs. We were not able to identify specific pre- or postnatal windows of exposure as particularly critical and susceptible for effects of EDCs. Current evidence is subject to several methodological challenges and inconsistencies and evidence on specific exposure-outcome associations remains too scarce to firmly confirm EDC exposure as a risk factor for changes in age of pubertal onset in the general child population. To create a more uniform foundation for future comparison of evidence and to strengthen pooled studies, we recommend the use of more standardized approaches in the choice of statistical analyses, with exposure transformations, and in the definitions and assessments of puberty outcomes. The impact of mixtures of EDC exposures on the association also remains unestablished and would be valuable to elucidate for prenatal and postnatal windows of exposure. Future large, longitudinal epidemiological studies are needed to clarify the overall association.
Topics: Child; Endocrine Disruptors; Female; Humans; Longitudinal Studies; Male; Menarche; Pregnancy; Puberty; Xenobiotics
PubMed: 35466359
DOI: 10.1093/humupd/dmac013