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Endocrine Jul 2023The current study aimed to report cases of McCune Albright syndrome (MAS) with growth hormone (GH) hyper secretion along with a systematic review of literature to...
PURPOSE
The current study aimed to report cases of McCune Albright syndrome (MAS) with growth hormone (GH) hyper secretion along with a systematic review of literature to elucidate challenges and intricacies in its diagnosis and management.
METHODS
It was a single centre study carried out in individuals with MAS and autonomous GH secretion (AGHS). In addition, a systematic search of literature across three databases (PubMed, Scopus and EMBASE) was performed from inception until May 31, 2021 to identify cases of MAS with AGHS in the pediatric age group (<18 years).
RESULTS
Three cases from authors centre and 42 cases identified from systematic literature review were analysed. Precocious puberty was the most common presenting endocrinopathy seen in 56.8% (25/44) cases, followed by hyperthyroidism (10/45), hypophosphatemia (4/45), and hypercortisolism (2/45). Cranio-facial fibrous dysplasia (CFFD) was seen in all while polyostotic fibrous dysplasia and Café au lait macule was seen in 40/45 (88.9%) and 35/45 (77.8%), respectively. Pituitary adenoma (58.3% microadenoma) was localized in 53.3% (24/45) cases on pituitary imaging. Biochemical and clinical remission of AGHS was achieved in 61.5% (24/45) cases with medical therapy.
CONCLUSION
Diagnosing AGHS in MAS is challenging because of concomitant presence of CFFD, non-GH endocrinopathies associated height spurt and elevated serum IGF-1. GH-GTT should be performed in presence of elevated growth velocity and serum IGF-1 (>1 X ULN) despite adequate control of non-GH endocrinopathies. Medical management can lead to disease control in substantial number of cases and often entails use of multiple agents.
Topics: Child; Humans; Adenoma; Fibrous Dysplasia, Polyostotic; Growth Hormone; Insulin-Like Growth Factor I; Pituitary Neoplasms
PubMed: 36877453
DOI: 10.1007/s12020-023-03333-7 -
Frontiers in Endocrinology 2022The average age at thelarche has trended downwards worldwide since 1970s; however, the onset age of "precocious puberty", defined as the lower percentiles of thelarche...
BACKGROUND
The average age at thelarche has trended downwards worldwide since 1970s; however, the onset age of "precocious puberty", defined as the lower percentiles of thelarche age, has been rarely reported. This systematic review aims to evaluate secular trends in age at thelarche among Chinese girls.
METHODS
This systematic review on the age at thelarche during puberty among Chinese girls was conducted systematic search of both Chinese (Chinese National Knowledge Infrastructure, WanFang Database, and the Chinese Scientific Journals Database) and English (PubMed, Cochrane Library, and Embase) databases. Data were analyzed using the GraphPad Prism v9.0.
RESULTS
A total of 16 studies involving 177,886 Chinese girls were synthesized. The QualSyst scores of these studies were high at an average of 21.25. The timing of Tanner breast stage 2 (B2) occurred earlier over time at the P, P, and median ages. Weighted analyses revealed that the overall onset age of B2 tended to be younger at P, P, and P. The age of B2 varied across regions and areas. For example, P, P, and median age of B2 in years were younger in southern regions than that in northern regions of China (P: 5.94 . 7.3; P: 6.6 . 7.9; median age: 8.26 . 9.5), and median age of B2 in urban areas (8.26 years) was earlier than that in rural areas (10.29 years). In addition, median age of B2 from 12 single-center studies was earlier than that from 4 multicenter studies (8.26 . 9.18 years).
CONCLUSIONS
The current findings indicated that pubertal breast development age among Chinese girls presented an advanced trend over the past 20 years, which urges the necessity to revisit and redefine "precocious puberty" and provides useful recommendations for clinical practice.
Topics: Female; Humans; Child, Preschool; Child; Young Adult; Adult; East Asian People; Puberty; Puberty, Precocious; Breast; China
PubMed: 36506059
DOI: 10.3389/fendo.2022.1042122 -
Nutrients Nov 2022The onset of puberty has become earlier over the decades, and nutrients and diet are related to the timing of puberty onset. Hence, we aimed to investigate the... (Meta-Analysis)
Meta-Analysis Review
The onset of puberty has become earlier over the decades, and nutrients and diet are related to the timing of puberty onset. Hence, we aimed to investigate the association between diet or nutrients in infancy, childhood and early puberty. PubMed, Embase, and Cochrane library were searched systematically up to 15 April 2022. The pooled relative risks (RRs) or regression coefficients (beta) were estimated using the random-effect model or fixed-effect model according to the heterogeneity between studies. Twenty-two articles on diet or nutrients in childhood and six about breastfeeding in infancy were included. The prolonged breastfeeding duration in infancy could reduce the risk of early menarche (beta 0.31, 95% CI: 0.01, 0.60, = 0.045). The high intake of yogurt was associated with a 35% reduction in the risk of earlier menarche (RR 0.65, 95% CI: 0.47, 0.89, = 0.008). Girls with severe food insecurity experienced later menarche (RR 0.81, 95% CI: 0.67, 0.98, = 0.027). Conversely, due to the high intake of protein, the risk of early menarche increased by 8% (RR 1.08, 95% CI: 1.01, 1.16, = 0.016). High intake of yogurt, longer duration of breastfeeding, and food insecurity decreased the possibility of earlier menarche, while high intake of protein increased that risk. As a modifiable factor, diet and nutrients in infancy and childhood provide new insights into the future prevention of early puberty.
Topics: Female; Humans; Menarche; Puberty; Diet; Puberty, Precocious; Eating
PubMed: 36501034
DOI: 10.3390/nu14235004 -
Journal of Pediatric Nursing 2022Precocious puberty (PP) is an illness that appears when puberty, begins some years earlier than usual, provoking inferences in preadolescents and adolescents and their... (Review)
Review
PROBLEM
Precocious puberty (PP) is an illness that appears when puberty, begins some years earlier than usual, provoking inferences in preadolescents and adolescents and their families. Therefore, the aim is to analyze if psychological consequences can be observed in groups of preadolescents or adolescents with PP.
METHOD
A bibliographic search of the scientific literature was made following the PRISMA guide in the following databases: ProQuest, Psychinfo, Web Of Science, and Scopus. 592 studies were found, were uploaded to Covidence to make a screening, of which finally 6 were included for the revision according to the inclusion and exclusion criteria. Two independent evaluators made the search, selection, data extraction and quality evaluation of studies independently. The agreement degree between both was excellent in all of the cases.
RESULTS
211 preadolescents participated in total in all studies, of which 99 were preadolescents with PP, with a mean age of 8,94 years old. Studies evaluated so heterogeneous variables, such as psychopathology, self-image, neuropsychological and cognitive variables, and reasons to delay or stop PP. The quality of studies was moderated especially due to the low quality of the studies design, which were mostly transversal, and the representativity of the sample, being selected by convenience.
CONCLUSIONS AND IMPLICATIONS
More research is needed to evaluate the psychological consequences of the PP diagnosis in pediatrics, and its protection factors, because none of the studies approached this question. We consider that it is necessary to increment the quality of these studies, and that these take a biopsychosocial perspective.
Topics: Adolescent; Child; Humans; Puberty; Puberty, Precocious; Self Concept
PubMed: 35033399
DOI: 10.1016/j.pedn.2022.01.002 -
Frontiers in Endocrinology 2021The gonadotropin-releasing hormone (GnRH) stimulation test is the benchmark for diagnosing precocious puberty (PP). However, it is invasive, time-consuming, costly, and... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The gonadotropin-releasing hormone (GnRH) stimulation test is the benchmark for diagnosing precocious puberty (PP). However, it is invasive, time-consuming, costly, and may create an unpleasant experience for participants. Moreover, some overlaps may occur between PP and premature thelarche (PT) in the early stage of PP. Female pelvic ultrasonography may provide additional information to help differentiate PP from PT and subsequently initiate early treatment. In this study, we aimed to first directly compare pelvic ultrasonography parameters between PP and PT groups and secondly, investigate their diagnostic accuracy compared with the GnRH stimulation test.
METHODS
A systematic search of the PubMed/MEDLINE, EMBASE, Scopus, and Cochrane Library databases was performed up to March 31, 2021. All types of studies, except for case reports and review articles, were included. The GnRH stimulation test was used to confirm PP diagnosis. Those whose organic conditions might cause PP were excluded. The mean, standard deviation, sensitivity, and specificity of each parameter were documented. Forest plots were constructed to display the estimated standardized mean differences (SMDs) from each included study and the overall calculations. A bivariate model was used to calculate the pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), and diagnostic odds ratio (DOR).
RESULTS
A total of 13 studies were included for analysis. The SMDs (95% confidence interval - CI) in ovarian volume, fundal-cervical ratio, uterine length, uterine cross-sectional area, and uterine volume between PP and PT groups were 1.12 (0.78-1.45; p < 0.01), 0.90 (0.07-1.73; p = 0.03), 1.38 (0.99-1.78; p < 0.01), 1.06 (0.61-1.50; p < 0.01), and 1.21 (0.84-1.58; p <0.01), respectively. A uterine length of 3.20 cm yielded a pooled sensitivity of 81.8% (95% CI 78.3%-84.9%), specificity of 82.0% (95% CI 61.0%-93.0%), PLR of 4.56 (95% CI 2.15-9.69), NLR of 0.26 (95% CI 0.17-0.39), and DOR of 19.62 (95% CI 6.45-59.68). The area under the summary receiver operating characteristics curve was 0.82.
CONCLUSION
Female pelvic ultrasonography may serve as a complementary tool to the GnRH stimulation test in differentiating PP from PT.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021232427, ID: CRD42021232427.
Topics: Child; Diagnosis, Differential; Female; Humans; Puberty, Precocious; Sensitivity and Specificity; Ultrasonography; Uterus
PubMed: 34539579
DOI: 10.3389/fendo.2021.735875 -
PloS One 2021The objective of this systematic review was to evaluate the association between a soy-based infant diet and the onset of puberty. We included studies in which children... (Meta-Analysis)
Meta-Analysis
The objective of this systematic review was to evaluate the association between a soy-based infant diet and the onset of puberty. We included studies in which children were fed a soy-based diet, and we compared them with those who were not. The primary outcomes were the onset of puberty in girls (thelarche, pubarche, and menarche age), boys (pubarche, voice change, testicular and penis enlargement age), and both (risk of delayed and precocious puberty [PP]). Search strategies were performed in PubMed, Embase, LILACS, and CENTRAL databases. Two reviewers selected eligible studies, assessed the risk of bias, and extracted data from the included studies. The odds ratio (OR) and mean difference (MD) were calculated with a 95% confidence interval (CI) as a measure of the association between soy consumption and outcomes. We used a random-effects model to pool results across studies and the Grading of Recommendations Assessment, Development, and Evaluation to evaluate the certainty of evidence. We included eight studies in which 598 children consumed a soy-based diet but 2957 did not. The primary outcomes that could be plotted in the meta-analysis were the risk of PP and age at menarche. There was no statistical difference between groups for PP (OR: 0.51, 95% CI: 0.09 to 2.94, 3 studies, 206 participants, low certainty of evidence). No between-group difference was observed in menarche age (MD 0.14 years, 95% CI -0.16 to 0.45, 3 studies, 605 children, low certainty of evidence). One study presented this outcome in terms of median and interquartile range, and although the onset of menarche was marginally increased in girls who received a soy-based diet, the reported age was within the normal age range for menarche. We did not find any association between a soy-based infant diet and the onset of puberty in boys or girls. Trial Registration: PROSPERO registration: CRD42018088902.
Topics: Child, Preschool; Databases, Factual; Diet; Female; Humans; Infant Food; Infant, Newborn; Male; Menarche; Puberty; Soy Foods
PubMed: 34003856
DOI: 10.1371/journal.pone.0251241 -
Hormone Research in Paediatrics 2020Kisspeptin (KP) is a key player in the regulation of the release of gonadotropin-releasing hormone (GnRH), which increases the secretion of gonadotropin during puberty... (Meta-Analysis)
Meta-Analysis
BACKGROUND/AIMS
Kisspeptin (KP) is a key player in the regulation of the release of gonadotropin-releasing hormone (GnRH), which increases the secretion of gonadotropin during puberty to establish reproductive function and regulate the hypothalamic-pituitary-gonadal axis. Premature activation of GnRH secretion leads to idiopathic/central gonadotropin-dependent precocious puberty (CPP). We aimed to compare the blood KP concentrations in girls with CPP and healthy controls.
METHODS
A systematic review and meta-analysis was performed. We searched MEDLINE, EMBASE, The Cochrane Library, and SciELO. Random-effects model and standardized mean difference (SMD) were used. Heterogeneity was assessed through I2. Meta-regression considered patient age, KP fraction, and analytical method for KP measurement.
RESULTS
The 11 studies included comprised 316 CPP patients and 251 controls. Higher KP levels in the CPP group were found (SMD 1.53; CI 95% = 0.56-2.51). Subgroup analysis revealed association with patient age (p = 0.048), indicating a positive correlation between elevation in KP concentration and age in CPP group. A group of patients with precocious thelarche (PT) from 5 of the included studies comprising 121 patients showed higher levels of KP (1.10; -0.25-2.45: CI 95%) and high heterogeneity (I2 = 91%). The CPP/PT ratio for KP level indicates KP 36% higher on CPP than PT patients.
CONCLUSIONS
A consistent difference in KP levels between girls with CPP and controls was identified. While there are important limitations in KP assays which argue against its use as a diagnostic tool, the KP levels in CPP versus control and PT children are consistent with the predicted mechanisms and pathophysiology of CPP.
Topics: Case-Control Studies; Child; Female; Humans; Kisspeptins; Puberty, Precocious
PubMed: 33887744
DOI: 10.1159/000515660 -
Pituitary Oct 2021POU1F1 mutations are prevalent in Indian CPHD cohorts. Genotype-phenotype correlation is not well-studied.
CONTEXT
POU1F1 mutations are prevalent in Indian CPHD cohorts. Genotype-phenotype correlation is not well-studied.
AIM
To describe phenotypic and genotypic spectrum of POU1F1 mutations in our CPHD cohort and present systematic review as well as genotype-phenotype analysis of all mutation-positive cases reported in world literature.
METHODS
Retrospective study of POU1F1 mutation-positive patients from a western-Indian center. PRISMA guidelines based pubmed search of published literature of all mutation-positive patients.
RESULTS
Our cohort had 15 POU1F1 mutation-positive patients (9 index, 6 relatives). All had severe GH, TSH and prolactin deficiencies (GHD, TSHD and PD). TSHD was diagnosed earliest followed by GHD (median ages: TSHD-6 months, GHD-3 years), while PD was more variable. Two sisters had central precocious puberty at 7 years of age. Pubic hair was deficient in all post-pubertal patients (females: P1-P2, males: P3-P4). Splice-site/intronic/frameshift mutations were most common, while missense/nonsense mutations were less frequent (33%). Review of world literature yielded 114 patients (82 index patients) from 58 studies. GHD was present in all patients. TSHD was spared in 12.5% and PD in 4.4% patients. Missense/nonsense mutations accounted for 75% of spectrum. Phenotype-genotype analysis revealed higher mean peak-GH levels (1.1 vs 0.2 ng/ml, p = 0.008) and lower prevalence of anterior-pituitary hypoplasia (63.6% vs 86.3%, p = 0.03) in patients with heterozygous than homozygous and compound heterozygous mutations.
CONCLUSIONS
We present largest series of POU1F1 mutation-positive patients. Precocious puberty and defective pubarche are lesser-appreciated phenotypic features. Our mutation spectrum is different from that of world literature. Patients with heterozygous mutations have milder phenotype.
Topics: Female; Humans; Hypopituitarism; Male; Mutation; Retrospective Studies; Transcription Factor Pit-1; Transcription Factors
PubMed: 33742319
DOI: 10.1007/s11102-021-01140-9 -
Neurosurgical Review Dec 2021The aim of this review was to determine the role of surgery in treating hypothalamic hamartoma (HH) causing isolated central precocious puberty (CPP). Literature review... (Review)
Review
The aim of this review was to determine the role of surgery in treating hypothalamic hamartoma (HH) causing isolated central precocious puberty (CPP). Literature review was done according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Patients with isolated CPP due to HH, managed with surgical resection, were included. We found 33 studies, reporting 103 patients (76 pedunculated, 27 sessile). Patients were considered "cured" if the symptoms of PP had regressed and the hormone profile had normalized after surgery. Indications for surgery included hamartoma deemed surgically resectable (n-12), for the purpose of tissue diagnosis (n-3), partial response/failure of preoperative therapy (n-9), and unable to afford/to avoid long-term medical therapy (n-7). The extent of resection was total (TR) (n-39), near total/subtotal (NTR/STR) (n-20), partial (PR) (n-35), or unspecified (n-9). On follow-up (range: 3 months-16 years), 73.6% (56/76) of patients with pedunculated HH were cured, while 17.1% (13/76) had partial relief. Only 3/27 (11.1%) of patients with sessile HH were cured. All patients with a pedunculated hamartoma who underwent TR (n=36) improved, with 88.88% cured of the symptoms. Surgery had no effect in 17/23 (73.9%) patients with sessile HH who underwent PR. Psychological symptoms improved in 10/11 patients. There was no mortality. Permanent complications, in the form of 3rd nerve palsy, occurred in 3.7% (2/54) of the patients. To conclude, in the current era of availability of GnRH analogs, surgical resection in a subset of patients may be acceptable especially for small pedunculated hamartomas.
Topics: Gonadotropin-Releasing Hormone; Hamartoma; Humans; Hypothalamic Diseases; Puberty, Precocious
PubMed: 33641048
DOI: 10.1007/s10143-021-01512-6 -
Clinical Endocrinology May 2021To investigate the long-term efficacy and safety of gonadotropin-releasing hormone analog (GnRHa) treatment in children with idiopathic central precocious puberty (CPP). (Meta-Analysis)
Meta-Analysis
Long-term efficacy and safety of gonadotropin-releasing hormone analog treatment in children with idiopathic central precocious puberty: A systematic review and meta-analysis.
OBJECTIVE
To investigate the long-term efficacy and safety of gonadotropin-releasing hormone analog (GnRHa) treatment in children with idiopathic central precocious puberty (CPP).
METHOD
The protocol was registered with International Prospective Register of Systematic Reviews (CRD42018102792). PubMed, EMBASE and the Cochrane Library were searched for eligible comparative and single-arm studies.
RESULTS
We identified a total of 98 studies that included 5475 individuals. The overall risk of bias of the eligible studies ranged from critical to moderate. The overall quality of evidence for each outcome ranged from very low to moderate. Evidence-based comparative studies showed that GnRHa treatment increase final adult height (FAH, cm; studies = 4, n = 242; mean difference [MD] = 4.83; 95% confidence interval [CI], 2.32 to 7.34; I = 49%) and decrease body mass index (BMI, kg/m ; studies = 3, n = 334; MD = -1.01; 95% CI, -1.64 to -0.37; I = 0%) in girls with idiopathic CPP compared with no treatment. The incidence of polycystic ovary syndrome (PCOS) did not significantly differ with and without GnRHa treatment (studies = 3, n = 179; risk ratio = 1.21; 95% CI, 0.46 to 3.15; I = 48%). The evidence for other long-term outcomes was very weak to deduce the effects of GnRHa treatment. Further, limited evidence is available on its effects in boys.
CONCLUSION
Compared with no treatment, evidence indicates that GnRHa treatment increase FAH and decrease BMI in girls with idiopathic CPP. GnRHa treatment did not evidently increase the risk of PCOS. However, evidence regarding other key long-term outcomes (such as infertility and malignant or metabolic diseases) was considered very weak to suggest the benefits or side effects of GnRHa treatment. Additional high-quality evidence is needed before firm conclusions can be drawn.
Topics: Body Height; Child; Female; Gonadotropin-Releasing Hormone; Humans; Male; Puberty, Precocious
PubMed: 33387371
DOI: 10.1111/cen.14410