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Precocious puberty

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https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#1
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28299573/mkrn3-levels-in-girls-with-central-precocious-puberty-and-correlation-with-sexual-hormone-levels-a-pilot-study
#2
Anna Grandone, Grazia Cirillo, Marcella Sasso, Carlo Capristo, Gianluca Tornese, Pierluigi Marzuillo, Caterina Luongo, Giuseppina Rosaria Umano, Adalgisa Festa, Ruggero Coppola, Emanuele Miraglia Del Giudice, Laura Perrone
PURPOSE: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been described in familial central precocious puberty. Serum levels of this protein decline before the pubertal onset in healthy girls and boys. The aim of the study is to investigate MKRN3 circulating levels in patients with central precocious puberty. METHODS: We performed an observational cross-sectional study. We enrolled 17 patients with central precocious puberty aged 7 years (range: 2-8 years) and breast development onset <8 years; 17 prepubertal control age-matched patients aged 6...
March 15, 2017: Endocrine
https://www.readbyqxmd.com/read/28284037/a-novel-dax-1-mutation-in-two-male-siblings-presenting-with-precocious-puberty-and-late-onset-hypogonadotropic-hypogonadism
#3
Yanxia Liu, Jinlei Yuan, Huijuan Zhang, Yanyan Jiang, Guijun Qin
Background The DAX-1 gene is associated with X-linked adrenal hypoplasia congenita (AHC). Our objective was to compare the DAX-1 gene sequence of two male siblings exhibiting different clinical manifestations of AHC. Methods Clinical features were analyzed and laboratory data were collected from both siblings. Genomic DNA was extracted from the peripheral blood leukocytes of the siblings and their parents and the DAX-1 gene exons and intron-flanking regions were amplified by the polymerase chain reaction. The DAX-1 gene sequences were compared following sequencing...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28251550/the-mystery-of-puberty-initiation-genetics-and-epigenetics-of-idiopathic-central-precocious-puberty-icpp
#4
REVIEW
Sofia Leka-Emiri, George P Chrousos, Christina Kanaka-Gantenbein
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonadotropic hypogonadism (nIHH), in the X-linked or autosomal forms of Kallmann syndrome and in precocious puberty have been identified (GNRH1, GNRHR, KISS1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, KAL1, PROK2, PROKR2, CHD7, LEP, LEPR, PC1, DAX1, SF-1, HESX-1, LHX3, PROP-1)...
March 1, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28245188/amh-levels-in-girls-with-various-pubertal-problems
#5
Senay Savas-Erdeve, Elif Sagsak, Meliksah Keskin, Semra Cetinkaya, Zehra Aycan
BACKGROUND: Anti-Müllerian hormone (AMH) is produced by granulosa cells surrounding follicles that have undergone recruitment from the primordial follicle pool but have not been selected for dominance (preantral and early antral follicles). In healthy girls, serum levels of AMH vary considerably between individuals. We aimed to evaluate the AMH level in girls with premature thelarche (PT) and central precocious puberty (CPP). METHODS: Girls with CPP (n=21), PT (n=24) and a control prepubertal group (n=22) were included in the study...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28242980/hypothyroidism-in-mccune-albright-syndrome-and-role-of-bone-scan-in-management-of-fibrous-dysplasia-an-unusual-case-scenario-with-review-of-literature
#6
Narvesh Kumar, Subhash Chand Kheruka, Rani Kunti R Singh, Mudalsha Ravina, Deepanksha Dutta, Sanjay Gambhir
The McCune-Albright syndrome (MAS) is a triad of café-au-lait skin pigmentation, precocious puberty (PP), and polyostotic fibrous dysplasia of bone (FD). In general, FD seems to be the most common component of MAS but very rarely precocious puberty can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases). Therefore, a more clinically relevant definition of MAS is fibrous dysplasia of bone (FD) and at least one of the typical hyperfunctioning endocrinopathy and/or café-au-lait spots, with almost any combination possible...
January 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28238607/leydig-cell-hyperplasia-in-children-case-series-and-review
#7
REVIEW
Nicole Mennie, Sebastian K King, Mohan Marulaiah, Peter Ferguson, Yves Heloury, Chris Kimber
INTRODUCTION: Leydig cell hyperplasia (LCH) and Leydig cell tumours (LCTs) in children are rare, typically presenting with precocious puberty. Previously, orchidectomy was the routine management; however, more recently, testis-sparing surgery has been performed with good results. We present a series of unusual presentations of LCH, raising new management questions, and a review of the literature regarding LCH and LCT in children. STUDY DESIGN: We performed a literature search using Ovid Medline, PubMed, and Google Scholar, producing 456 articles...
February 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28173651/-rapidly-progressive-puberty-in-a-patient-with-mosaic-turner-syndrome-a-case-report-and-literature-review
#8
Y Liang, H Wei, X Yu, W Huang, X P Luo
Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28168619/pure-endoscopic-management-of-epileptogenic-hypothalamic-hamartomas
#9
S Chibbaro, H Cebula, J Scholly, J Todeschi, I Ollivier, A Timofeev, M Ganau, P Di Emidio, M P Valenti, A M Staack, T Bast, B J Steinhoff, E Hirsch, P Kehrli, F Proust
Hypothalamic hamartomas (HH) are rare congenital malformations located in the region of the tuber cinereum and third ventricle. Their usual clinical presentation is characterized by gelastic/dacrystic seizures which often become pharmaco-resistant and progress to secondary focal/generalized intractable epilepsy causing mostly in children cognitive and behavioral problems (particularly in cases of progressive epileptic encephalopathy) and precocious puberty. Whereas gelastic seizures can be surgically controlled either by resection of the lesion or disconnection (tissue-destructive) procedures, aimed at functionally prevent the spreading of the epileptic burst; generalized seizures tend to respond better to HH excision rather than isolated neocortical resections, which generally fail to control them...
February 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28167925/commentary-cognitive-emotional-and-psychosocial-functioning-of-girls-treated-with-pharmacological-puberty-blockage-for-idiopathic-central-precocious-puberty
#10
COMMENT
https://www.readbyqxmd.com/read/28167139/evaluation-treatment-and-follow-up-results-of-ovarian-cysts-in-childhood-and-adolescence-a-multicenter-retrospective-study-of-100-patients
#11
Banu Kucukemre Aydin, Nurcin Saka, Firdevs Bas, Yasin Yilmaz, Belma Haliloglu, Tulay Guran, Serap Turan, Abdullah Bereket, Gul Yesiltepe Mutlu, Filiz Cizmecioglu, Sukru Hatun, Digdem Bezen, Filiz Tutunculer, Nurcan Cebeci, Pinar Isguven, Nihal Memioglu, Oya Ercan, Sukran Poyrazoglu, Rüveyde Bundak, Feyza Darendeliler
STUDY OBJECTIVE: To investigate the characteristics of children with ovarian cysts at presentation and during follow up, and evaluate treatment strategies. DESIGN: Retrospective Study SETTING: Eight Pediatric Endocrinology Clinics, Turkey PARTICIPANTS: A total of 100 children and adolescents with ovarian cysts. INTERVENTIONS: Patient data collected via retrospective chart review. Patients were stratified by age into 4 groups (newborns, 1-12 months, 1-8 years, and 8-18 years)...
February 3, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28164078/an-11-month-old-girl-with-central-precocious-puberty-caused-by-hypothalamic-hamartoma
#12
Da Young Yoon, Jae Hyun Kim
Central precocious puberty (CPP) is caused by premature activation of the hypothalamic-gonadal axis, and must be treated adequately. In particular, CPP that occurs at a relatively young age or in boys is likely to be caused by an organic lesion. Hypothalamic hamartoma (HH) is the most common organic cause of CPP. The present case report describes an 11-month-old female infant who presented with vaginal bleeding and rapidly progressive secondary sex characteristics from the age of 6 months. She was diagnosed with CPP following the detection of HH via magnetic resonance imaging...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164072/leptin-and-adiponectin-levels-in-girls-with-central-precocious-puberty-before-and-during-gnrh-agonist-treatment
#13
Jae Won Yoo, Chun Woo Song, Han Hyuk Lim
PURPOSE: The effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on the energy metabolism in girls with central precocious puberty (CPP) are controversial. We focused the changes and related factors of serum levels of leptin and adiponectin in girls with CPP before and during GnRHa treatment. METHODS: Thirty girls with idiopathic CPP were enrolled in the study. Their auxological data and fasting blood were collected at the baseline and after six months of GnRHa treatment...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28161677/serum-anti-m%C3%A3-llerian-hormone-and-inhibin-b-as-potential-markers-for-progressive-central-precocious-puberty-in-girls
#14
Ting Chen, Haiying Wu, Rongrong Xie, Fengyun Wang, Xiuli Chen, Hui Sun, Linqi Chen
STUDY OBJECTIVE: To investigate the potential of serum anti-Müllerian hormone (AMH) and inhibin B (INHB) levels as markers for pubertal progression rate in girls with central precocious puberty (CPP). DESIGN, SETTING, AND PARTICIPANTS, INTERWENTIONS, AND MAIN OUTCOME MEASURES: A total of 148 girls were enrolled, including 65 girls with premature thelarche (PT) and 83 girls with CPP, grouped based on the results of Gonadotropin-releasing hormone (GnRH) stimulation tests. Girls with CPP underwent a six-month follow-up, and were further divided into two subgroups: progressive CPP (P-CPP) group (n=55) and slowly progressive CPP (SP-CPP) group (n=28)...
February 1, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28156152/relationship-between-serum-leptin-levels-and-weight-gain-in-girls-with-central-precocious-puberty-at-a-1year-follow-up
#15
Jessie N Zurita-Cruz, Miguel A Villasís-Keever, Leticia Damasio-Santana, Leticia Manuel-Apolinar, Elisa Nishimura-Meguro, Aleida de J Rivera-Hernández, Eulalia Garrido-Magaña, Alejandro Gutierrez-Gonzalez, Adriana Poblano-Alcalá
BACKGROUND AND OBJECTIVES: Patients with central precocious puberty (CPP) may have increased serum leptin levels; however, it is not well known whether this increase differs between patients with and without obesity. Our objectives were to describe the changes in serum leptin in girls with CPP in the first 12 months after diagnosis based on BMI and to explore whether serum leptin level at CPP diagnosis is related to BMI z-score (BMIz) after a one-year follow-up. DESIGN: A prospective cohort study was performed...
February 3, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28145651/serum-anti-m%C3%A3-llerian-hormone-levels-in-precocious-puberty-girls-according-to-stage-of-gnrh-agonist-treatment
#16
Hyo Kyoung Nam, Hye Ryun Kim, Young Jun Rhie, Kee Hyoung Lee
Few studies have investigated the long-term effects of gonadotropin-releasing hormone (GnRH) agonist treatment on the reproductive function of central precocious puberty (CPP) girls. In this cross-sectional study, we assessed the ovarian function by analyzing the serum anti-Müllerian hormone (AMH) levels of CPP girls. Our study included 505 CPP girls subdivided into 5 groups according to the GnRH agonist treatment stage: group A (before treatment, n = 98), group B (3 months after initiation, n = 103), group C (12 months after initiation, n = 101), group D (24 months after initiation, n = 101), and group E (6 months after discontinuation, n = 102)...
March 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#17
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/28114141/lung-function-in-women-with-idiopathic-central-precocious-puberty-a-pilot-study%C3%A2
#18
Virginia Murri, Franco Antoniazzi, Michele Piazza, Paolo Cavarzere, Claudia Banzato, Attilio Boner, Rossella Gaudino
BACKGROUND: Studies have reported that women with early menarche (≤10 years) have lower lung function. AIM: To investigate lung function in women with a history of idio pathic central precocious puberty (ICPP) treated during childhood with gonadotropin-releasing hormone agonist (GnRHa). METHODS: ICPP women (n = 23) were compared with healthy age-matched controls (n = 23). Subjects were clinically evaluated by means of a questionnaire, baseline and post-β<Sub>2</Sub> agonist spirometry, impulse oscillometry (a measure of airway resistance), and measurement of fractional exhaled nitric oxide (FeNO)...
January 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28101370/recurrent-ovarian-sertoli-leydig-cell-tumor-in-a-child-with-peutz-jeghers-syndrome
#19
Edward J Bellfield, Ramin Alemzadeh
We present a female child with Peutz-Jeghers syndrome (PJS) with a recurrent ovarian Sertoli-Leydig cell tumor (SLCT). SLCTs are relatively rare sex cord neoplasms that can occur in PJS. The patient was an African-American female who first presented at the age of 3 years with precocious puberty, and then at the age of 17 years with abdominal pain and irregular menses. In each case, she had resection of the mass, which included oophorectomy. To our knowledge, this is the first reported case in a child with PJS to have a recurrent ovarian SLCT...
August 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28091641/effects-of-pomegranate-extract-in-supplementing-gonadotropin-releasing-hormone-therapy-on-idiopathic-central-precocious-puberty-in-chinese-girls-a-randomized-placebo-controlled-double-blind-clinical-trial
#20
Jinsheng Liu, Jiulai Tang
Central precocious puberty (CPP) without organic abnormality is called idiopathic CPP (ICPP). The objective of this trial was to evaluate the effects of pomegranate extract in supplementing gonadotropin-releasing hormone (GnRH) analog therapy on ICPP-affected girls in the Chinese population. 286 girls, diagnosed with ICPP were initially enrolled into this trial, and among them 225 eligible patients were randomized to receive a combinational GnRH analog treatment supplemented with either a placebo or pomegranate extract on a daily basis for a period of 3 months...
January 16, 2017: Food & Function
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