Hyun Young Lee, Yoon-Ji Lee, Moon-Bae Ahn, Won-Kyoung Cho, Byung-Kyu Suh
PURPOSE: We investigated the effect of overweight on luteinizing hormone (LH) levels after a gonadorelin stimulation test in Korean girls with idiopathic central precocious puberty (CPP). METHODS: Medical records of 234 girls diagnosed with idiopathic CPP were reviewed retrospectively. CPP was diagnosed when the peak LH levels after gonadorelin stimulation was >5.0 U/L. The enrolled girls had a peak LH level >5.0 U/L after a gonadorelin stimulation test...
December 2018: Annals of Pediatric Endocrinology & Metabolism
Pattara Wiromrat, Ouyporn Panamonta
Objective: Longitudinal data in random luteinizing hormone (LH) concentrations in patients with idiopathic central precocious puberty (ICPP) during treatment are limited. Therefore, we sought to evaluate random LH and estradiol concentrations during monthly leuprolide injection and its associations with pubertal progression and final adult height (FAH) in girls with ICPP. Methods: Medical records of 27 ICPP girls who attained FAH were reviewed. Patients’ height, weight, Tanner stage, growth rate (GR), bone age, random LH, follicular-stimulating hormone (FSH) and estradiol were monitored until FAH...
December 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
Rajesh Rajput, Sanat Mishra, Parul Ahlawat, Pawan Kumar Yadav
Precocious puberty is characterised by premature appearance of secondary sexual characteristics before the age of 7 years in girls and 9 years in boys. Dandy-Walker malformation comprises a spectrum of intracranial malformations of the posterior fossa. We present a case of a 7-year-old male child who has presented with features of central precocious puberty and on further evaluation has been found to have Dandy-Walker variant and secondary hypothyroidism. The following case report describes this association which is extremely rare and has never been described in literature...
November 28, 2018: BMJ Case Reports
Jérémie Tencer, Pierre Lemaire, Sylvie Brailly-Tabard, Raja Brauner
OBJECTIVE: To compare the serum inhibin B, anti-Müllerian hormone (AMH) and leptin concentrations in girls with idiopathic central precocious puberty (CPP) to their concomitant characteristics and evaluate the capacity of each of these hormones to predict the age at first menstruation in those who were untreated and who completed their puberty. METHODS: This single-center study included 94 girls selected from a cohort of 493 girls seen between 1981 and 2012 and diagnosed with idiopathic CPP for whom a remaining serum sample collected at the initial evaluation was available...
2018: PloS One
Jong Seo Yoon, Cheol Hwan So, Hae Sang Lee, Jung Sub Lim, Jin Soon Hwang
Background: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in girls with central precocious puberty (CPP). We aimed to investigate the prevalence and type of brain lesions among Korean girls with CPP and evaluate the need for routine brain MRI examinations. Methods: This retrospective cross-sectional study evaluated data on 3,528 girls diagnosed with CPP from April 2003 to December 2016, and identified 317 girls who underwent sellar MRI...
December 17, 2018: Journal of Korean Medical Science
Elsa V Arocho-Quinones, Jennifer Koop, Sean M Lew
BACKGROUND: Hypothalamic hamartomas (HHs) are non-neoplastic congenital malformations associated with refractory epilepsy and behavioral disorders. Improvement in behavioral functioning following resection of HHs has been reported. Stereotactic laser ablation (SLA), a minimally invasive technique, has been used for the treatment of HH-related epilepsy. We report the case of child with a HH, gelastic seizures, and severe psychiatric dysfunction who was successfully treated via SLA therapy...
November 24, 2018: World Neurosurgery
Rachel H Fein, Gabrielle G Banks, Marsha N Gragert, Marni E Axelrad
Most children with hypothalamic hamartoma (HH) manifest symptoms of epilepsy and associated cognitive deficits and behavioral difficulties as well as central precocious puberty (CPP). However, there is little to no research examining behavioral difficulties in children with HH without epilepsy, nor is there research examining treatments to address the behavioral difficulties of patients with HH without epilepsy. In the current case report, the authors implemented a validated parent management training program [the Brief Behavioral Intervention (BBI)], to treat symptoms of ADHD and disruptive behavior in a 6-year-old female patient with HH and CPP...
November 23, 2018: Journal of Clinical Psychology in Medical Settings
Danielle S Bessa, Mariana Maschietto, Carlos Francisco Aylwin, Ana P M Canton, Vinicius N Brito, Delanie B Macedo, Marina Cunha-Silva, Heloísa M C Palhares, Elisabete A M R de Resende, Maria de Fátima Borges, Berenice B Mendonca, Irene Netchine, Ana C V Krepischi, Alejandro Lomniczi, Sergio R Ojeda, Ana Claudia Latronico
BACKGROUND: Recent studies demonstrated that changes in DNA methylation (DNAm) and inactivation of two imprinted genes (MKRN3 and DLK1) alter the onset of female puberty. We aimed to investigate the association of DNAm profiling with the timing of human puberty analyzing the genome-wide DNAm patterns of peripheral blood leukocytes from ten female patients with central precocious puberty (CPP) and 33 healthy girls (15 pre- and 18 post-pubertal). For this purpose, we performed comparisons between the groups: pre- versus post-pubertal, CPP versus pre-pubertal, and CPP versus post-pubertal...
November 22, 2018: Clinical Epigenetics
Larissa G Gomes, Marina Cunha-Silva, Raiane P Crespo, Carolina O Ramos, Luciana R Montenegro, Ana Canton, Melissa Lees, Helen Spoudeas, Andrew Dauber, Delanie B Macedo, Danielle S Bessa, Gustavo A Maciel, Edmund C Baracat, Alexander A L Jorge, Berenice B Mendonca, Vinicius N Brito, Ana Claudia Latronico
BACKGROUND: Delta-like homolog 1 (DLK1), also called preadipocyte factor 1, prevents adipocyte differentiation and has been considered a molecular gatekeeper of adipogenesis. A DLK1 complex genomic defect was identified in five women from a single family with central precocious puberty (CPP) and increased body fat percentage. METHODS: We studied 60 female patients with a diagnosis of CPP or history of precocious menarche. Thirty-one of them reported a family history of precocious puberty...
June 1, 2019: Journal of Clinical Endocrinology and Metabolism
Firdevs Baş, Zehra Yavaş Abalı, Güven Toksoy, Şükran Poyrazoğlu, Rüveyde Bundak, Çağrı Güleç, Zehra Oya Uyguner, Feyza Darendeliler
Central precocious puberty (CPP) or early puberty (EP) is a rare entity in combined pituitary hormone deficiency (CPHD), the latter caused by mutations in pituitary transcription factor genes. The early onset of puberty in two patients with CPHD with POU1F1 gene mutation was evaluated. A 3-month-old boy was diagnosed with central hypothyroidism, and L-thyroxine was commenced. He was referred for the evaluation of short stature at 20 months of age. Anthropometric evaluation revealed severe short stature (- 6...
December 2018: Hormones: International Journal of Endocrinology and Metabolism
Julien Denis, Volodia Dangouloff-Ros, Graziella Pinto, Isabelle Flechtner, Marie Piketty, Dinane Samara, Raphael Levy, David Grévent, Anne-Elodie Millischer, Francis Brunelle, Vincent Prevot, Michel Polak, Nathalie Boddaert
PURPOSE: To evaluate a non-invasive method to assess the progressivity of idiopathic central precocious puberty (CPP) by quantifying perfusion of the pituitary stalk with arterial spin labeling (ASL) and using the gonadotropin-releasing hormone (GnRH) test as a reference test to define progressive CPP. METHODS: In a single center retrospective study, 52 consecutive patients, observed between October 2015 and April 2017 and referred with early signs of puberty, were evaluated using the GnRH test and cerebral magnetic resonance imaging (MRI)...
November 5, 2018: Clinical Neuroradiology
Asma Deeb, Mariette Akle, Abrar Al Zaabi, Zohra Siwji, Salima Attia, Hana Al Suwaidi, Nabras Al Qahtani, Sarah Ehtisham
Background: Parental anxiety about the impact of puberty/menses, particularly in girls with severe disability leads to seeking therapeutic pubertal suppression. We aim to explore maternal attitudes and reasons for seeking pubertal suppression. Methods: Mothers of girls receiving gonadotropin -releasing hormone analogue therapy in Mafraq hospital, Abu Dhabi were enrolled in the study. A semistructured interview was conducted to ascertain possible reasons for delaying puberty...
2018: BMJ Paediatrics Open
Ran Ke, Xin Ma, Leo T O Lee
It is widely acknowledged that kisspeptin and its receptor Kiss1R play central regulatory roles in the hypothalamus-pituitary-gonad (HPG) axis and reproduction. Mutations of KISS1 and KISS1R lead to disorders associated with pubertal development, such as central precocious puberty (CPP) and idiopathic hypogonadotropic hypogonadism (IHH). This review focuses on KISS1 and KISS1R mutations found in CPP and IHH and its purposes are twofold: Firstly, based on the mutations found in KISS1 and KISS1R, this review provides insights into the precise mechanism of kisspeptin and the kisspeptin/Kiss1R pathway in the reproductive axis and in puberty...
October 16, 2018: Peptides
Selmen Wannes, Monique Elmaleh-Bergès, Dominique Simon, Delphine Zénaty, Laetitia Martinerie, Caroline Storey, Georges Gelwane, Anne Paulsen, Emmanuel Ecosse, Nicolas De Roux, Jean Claude Carel, Juliane Léger
Objective Non-idiopathic CPP is caused by acquired or congenital hypothalamic lesions visible on MRI or is associated with various complex genetic and/or syndromic disorders. This study investigated the different types and prevalence of non-isolated CPP phenotypes. Design and Methods This observational cohort study included all patients identified as having non-idiopathic CPP in the database of a single academic pediatric care center over a period of 11.5 years. Patients were classified on the basis of MRI findings for the CNS as having either hypothalamic lesions or complex syndromic phenotypes without structural lesions of the hypothalamus...
December 1, 2018: European Journal of Endocrinology
Pierre Lemaire, Gwénaëlle Duhil de Bénazé, Dick Mul, Sabine Heger, Wilma Oostdijk, Raja Brauner
BACKGROUND: A previous single-center study established a mathematical model for predicting the adult height (AH) in girls with idiopathic central precocious puberty (CPP). OBJECTIVE: To perform internal and external validations by comparing the actual AH to the calculated AH established by this model and to update it. METHODS: The original formula, calculated AH (cm) = 2.21 (height at initial evaluation, SD) + 2.32 (target height, SD) - 1...
2018: PloS One
Jessie N Zurita-Cruz, Patricia Medina-Bravo, Leticia Manuel-Apolinar, Leticia Damasio-Santana, Guillermo Wakida-Kusunoki, Michel Padilla-Rojas, Cesar Maldonado-Rivera, Alejandro Gutierrez-Gonzalez, Elisa Nishimura-Meguro, Eulalia Garrido-Magaña, Aleida de J Rivera-Hernández, Miguel A Villasís-Keever
OBJECTIVE: To compare serum resistin concentrations between prepubertal girls with a BMI > 85th percentile and girls with precocious puberty (CPP) who have and have not undergone GnRH analog treatment. PATIENTS AND METHODS: This is a cross-sectional study in girls with a BMI > 85th percentile and a median age of 8 years. We included 31 girls with CPP who did not receive treatment (CPPoT), 23 girls with CPP who were treated with leuprolide (CPPT), 22 prepubertal girls and 24 pubertal girls...
September 29, 2018: Peptides
Anna Grandone, Grazia Cirillo, Marcella Sasso, Gianluca Tornese, Caterina Luongo, Adalgisa Festa, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice
BACKGROUND: Recently, mutations of makorin RING finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of our study was to investigate longitudinal changes in circulating MKRN3 levels in patients with CPP before and during GnRH analogs (GnRHa) treatment. METHODS: We performed a longitudinal prospective study...
2018: Hormone Research in Pædiatrics
Robert A Swendiman, Maria G Vogiatzi, Craig A Alter, Michael L Nance
PURPOSE: To perform the largest review of the safety and clinical management practices of histrelin implantation in children. METHODS: A retrospective cohort study was performed including all patients (age ≤ 20) that underwent histrelin implant insertion, replacement, or removal by a single surgeon at a large pediatric tertiary care center (2008-2017). Data analyzed included patient demographics, procedure details, and complications. RESULTS: A total of 377 patients, with a mean age of 9...
July 2019: Journal of Pediatric Surgery
Hua-Pin Chang, Shun-Fa Yang, Shu-Li Wang, Pen-Hua Su
BACKGROUND: Insulin and insulin-like growth factor (IGF)-1 coupled with growth hormone helps control timing of sexual maturation. Mutations and variants in multiple genes are associated with development or reduced risk of central precocious puberty (CPP). METHODS: We assessed single nucleotide polymorphisms (SNPs) in the IGF-1, IGF-2, IGF-3, IGF-1 receptor (IGF1R), IGF-2 receptor (IGF2R), and IGF -binding protein 3 (IGFBP-3) genes, and their association with demographics and metabolic proteins in girls with CPP...
September 19, 2018: BMC Endocrine Disorders
Janyerkye Tulyeu, Moe Tamaura, Eriko Jimbo, Hiroko Shimbo, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Tomohide Goto, Noriko Aida, Etsuro Tokuhiro, Takanori Yamagata, Hitoshi Osaka
Alexander disease (AxD) is a neurodegenerative disease in astrocytes caused by a mutation in the gene encoding glial fibrillary acidic protein, GFAP. We herein present the case of a 12-year-old girl who showed intermittent exotropia at 3 years of age and central precocious puberty at 7 years of age. The periventricular and medulla oblongata showed high signal intensity on T2-weighted magnetic resonance imaging. The patient was diagnosed with AxD after direct sequencing revealing a de novo recurrent mutation, c...
September 10, 2018: Brain & Development
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