Venkatram Yellapragada, Xiaonan Liu, Carina Lund, Johanna Känsäkoski, Kristiina Pulli, Sanna Vuoristo, Karolina Lundin, Timo Tuuri, Markku Varjosalo, Taneli Raivio
Paternally-inherited loss-of-function mutations in makorin ring finger protein 3 gene ( MKRN3 ) underlie central precocious puberty. To investigate the puberty-related mechanism(s) of MKRN3 in humans, we generated two distinct bi-allelic MKRN3 knock-out human pluripotent stem cell lines, Del 1 and Del 2, and differentiated them into GNRH1 -expressing neurons. Both Del 1 and Del 2 clones could be differentiated into neuronal progenitors and GNRH1 -expressing neurons, however, the relative expression of GNRH1 did not differ from wild type cells ( P = NS)...
2019: Frontiers in Endocrinology
Bar Neeman, Rachel Bello, Liora Lazar, Moshe Phillip, Liat de Vries
CONTEXT: Central precocious puberty (CPP) may be the first presentation of nonclassical congenital adrenal hyperplasia (NCCAH) in girls. Data on the prevalence and the clinical phenotype of CPP associated with NCCAH are sparse. OBJECTIVES: To study the clinical and laboratory characteristics that could differentiate idiopathic CPP from CPP associated with NCCAH and to determine the prevalence of NCCAH among girls with CPP. DESIGN: Case-control study...
July 1, 2019: Journal of Clinical Endocrinology and Metabolism
Devi Dayal, Anshita Aggarwal, Keerthivasan Seetharaman, Balasubramaniyan Muthuvel
No abstract text is available yet for this article.
November 2018: Indian Journal of Endocrinology and Metabolism
Sena Cantas-Orsdemir, Erica A Eugster
Precocious puberty (PP) is one of the most common reasons for referral to pediatric endocrinologists. Gonadotropin-releasing hormone analogs (GnRHas) are the gold standard for the treatment of central precocious puberty (CPP) and have an impressive record of safety and efficacy. However, ongoing refinements in diagnosis and management continue to lead to important advancements in clinical care. Areas covered: The aim of this review is to cover current considerations and controversies regarding the diagnosis of CPP, as well as new findings in regards to etiology and treatment modalities...
February 12, 2019: Expert Review of Endocrinology & Metabolism
Liyan Pan, Guangjian Liu, Xiaojian Mao, Huixian Li, Jiexin Zhang, Huiying Liang, Xiuzhen Li
BACKGROUND: Central precocious puberty (CPP) in girls seriously affects their physical and mental development in childhood. The method of diagnosis-gonadotropin-releasing hormone (GnRH)-stimulation test or GnRH analogue (GnRHa)-stimulation test-is expensive and makes patients uncomfortable due to the need for repeated blood sampling. OBJECTIVE: We aimed to combine multiple CPP-related features and construct machine learning models to predict response to the GnRHa-stimulation test...
February 12, 2019: JMIR Medical Informatics
Leandro Soriano-Guillén, Jesús Argente
Precocious puberty is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. Central precocious puberty (CPP) is diagnosed when activation of the hypothalamic-pituitary axis is identified. It is a rare disease with a clear female predominance. A background of international adoption increases its risk, with other environmental factors such as endocrine disruptors also being associated with CPP. The causes of CPP are heterogeneous, with alterations of the CNS being of special interest...
June 2019: Best Practice & Research. Clinical Endocrinology & Metabolism
Andrea J Arcari, Analía V Freire, María E Escobar, María G Ballerini, María G Ropelato, Ignacio Bergadá, Mirta G Gryngarten
Background Puberty is associated with a physiological decline in insulin sensitivity (IS). Overweight (OW) and obesity (OB) are common among girls with central precocious puberty (CPP). CPP is considered a risk factor for metabolic diseases. The aim of this study was to assess surrogate measures of IS, body mass index (BMI) and other metabolic parameters in CPP girls at diagnosis and during treatment with gonadotropin-releasing hormone analogues (GnRHa). Methods We present a prospective longitudinal study of CPP girls...
February 25, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Pedro Souteiro, Rúben Maia, Rita Santos-Silva, Rita Figueiredo, Carla Costa, Sandra Belo, Cíntia Castro-Correia, Davide Carvalho, Manuel Fontoura
PURPOSE: Guidelines on pituitary incidentalomas evaluation and management are limited to adults since there are no data on this matter in the paediatric population. We aim to analyse the morphologic characteristics, hormonal profile and follow-up of these lesions in children. METHODS: We have searched for pituitary incidentalomas in the neuroimaging reports and electronic medical records of the Paediatric Endocrinology Clinic of our centre. Patients with 18 years-old or less were included...
April 2019: Pituitary
Erina Suzuki, Hirohito Shima, Masayo Kagami, Shun Soneda, Toshiaki Tanaka, Shuichi Yatsuga, Junko Nishioka, Yuji Oto, Toshiya Kamiya, Yasuhiro Naiki, Tsutomu Ogata, Yasuko Fujisawa, Akie Nakamura, Sayaka Kawashima, Shuntaro Morikawa, Reiko Horikawa, Shinichiro Sano, Maki Fukami
We sequenced MKRN3 , the major causative gene of central precocious puberty in Western countries, in 24 Japanese or Chinese patients and examined the DNA methylation and copy-number statuses of this gene in 19 patients. We identified no (epi)genetic defects except for one previously reported mutation. These results, together with reports from Korea, indicate that MKRN3 defects are rare in Asian populations. The ethnic differences likely reflect Western country-specific founder mutations and the rarity of de novo mutations...
2019: Human Genome Variation
Nosrat Ghaemi, Martha Ghahraman, Samaneh Noroozi Asl, Rahim Vakili, Fatemeh Fardi Golyan, Meysam Moghbeli, Mohammad Reza Abbaszadegan
BACKGROUND: Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-coupled receptor-54, is as an essential gatekeeper and regulator of GnRH neurons, and a key factor in initiation of puberty. Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively. This study was designed to evaluate variations of GPR54 in familial precocious puberty...
January 11, 2019: Italian Journal of Pediatrics
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
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