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Central precocious puberty

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https://www.readbyqxmd.com/read/28546864/the-first-japanese-case-of-central-precocious-puberty-with-a-novel-mkrn3-mutation
#1
Junko Nishioka, Hirohito Shima, Maki Fukami, Shuichi Yatsuga, Takako Matsumoto, Kikumi Ushijima, Miyuki Kitamura, Yasutoshi Koga
MKRN3, located on chromosome 15q11.2, encodes makorin ring-finger 3, which is an upstream suppressor of the hypothalamic-pituitary-gonadal axis. Mutation of this gene induces central precocious puberty (CPP). As MKRN3 is maternally imprinted, only the paternal allele is expressed. This is the first report of an 8-year-old Japanese girl with CPP caused by a novel frameshift mutation in MKRN3 (p.Glu229Argfs*3).
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28525351/association-study-of-lin28b-in-girls-with-precocious-puberty
#2
Yen-Chun Chen, Li-Min Chen, Hung-Hsun Lin, Bai-Hsiun Chen, Mei-Chyn Chao, Hui-Pin Hsiao
BACKGROUND: Central precocious puberty (CPP), predominant in girls, is defined by early development of secondary sexual characteristics driven by the early secretion of hypothalamic gonadotropin releasing hormone (GnRH) and subsequent gonadotropin. Recent studies have shown variation in the LIN28B gene is associated with timing of puberty, but only a few have show it to be associated with CPP. METHODS: This study attempted to investigate the relation between single-nucleotide polymorphisms (SNPs) in LIN28B and girls with precocious puberty...
May 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28486374/premature-thelarche-and-the-pura-syndrome
#3
Joshua Rezkalla, Tiffany Von Wald, Keith A Hansen
BACKGROUND: Premature thelarche is a self-limited condition characterized by Tanner stage II-III breast development in girls younger than 8 years of age with no evidence of advancing puberty. Evaluation concentrates on excluding central or peripheral causes of precocious puberty. CASE: A girl aged 2 years 4 months with profound hypotonia and delayed developmental milestones presented with Tanner II breast development, elevated follicle-stimulating hormone levels, suppressed luteinizing hormone level, normal growth and skeletal development, and prepubertal uterine length and ovarian volume...
June 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28443259/the-different-effects-of-gonadotropin-releasing-hormone-agonist-therapy-on-body-mass-index-and-growth-between-normal-weight-and-overweight-girls-with-central-precocious-puberty
#4
Won Jun Yang, Keun Hyeok Ko, Kon Hee Lee, Il Tae Hwang, Yeon Joung Oh
PURPOSE: The effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on body mass index (BMI) are controversial in girls with central precocious puberty (CPP). We therefore evaluated auxological parameters during GnRHa therapy in patients with CPP, specifically focusing on changes in BMI. METHODS: Seventy-seven girls with idiopathic CPP who underwent GnRHa therapy were retrospectively recruited. We investigated BMI changes during the treatment period after stratifying them according to baseline BMI status as follows: normal (BMI percentile of <85th) and overweight groups (BMI percentile of ≥85th)...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443256/change-in-body-mass-index-and-insulin-resistance-after-1-year-treatment-with-gonadotropin-releasing-hormone-agonists-in-girls-with-central-precocious-puberty
#5
Jina Park, Jae Hyun Kim
PURPOSE: Gonadotropin-releasing hormone agonist (GnRHa) is used as a therapeutic agent for central precocious puberty (CPP); however, increased obesity may subsequently occur. This study compared body mass index (BMI) and insulin resistance during the first year of GnRHa treatment for CPP. METHODS: Patient group included 83 girls (aged 7.0-8.9 years) with developed breasts and a peak luteinizing hormone level of ≥5 IU/L after GnRH stimulation. Control group included 48 prepubertal girls...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28442439/marshall-smith-syndrome-novel-pathogenic-variant-and-previously-unreported-associations-with-precocious-puberty-and-aortic-root-dilatation
#6
Anjali Aggarwal, Joanne Nguyen, Michelle Rivera-Davila, David Rodriguez-Buritica
Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We present a nine-year-old girl who was diagnosed with MRSHSS based on characteristic clinical features supported by the identification of a novel de novo pathogenic variant in the NFIX gene. The patient also presented with precocious puberty diagnosed at five years of age and had an abnormal GnRH stimulation test indicative of central precocious puberty...
April 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28400459/investigating-the-relationship-between-precocious-puberty-and-obesity-a-cross-sectional-study-in-shanghai-china
#7
Chang Chen, Yunting Zhang, Wanqi Sun, Yao Chen, Yanrui Jiang, Yuanjin Song, Qinmin Lin, Lixia Zhu, Qi Zhu, Xiumin Wang, Shijian Liu, Fan Jiang
OBJECTIVES: Obesity is reported to be closely relevant to early sexual development but the relationship between sexual precocity and obesity or central obesity is still inconsistent, especially in boys. We aimed to investigate the relationship between precocious puberty and obesity as well as central obesity. DESIGN: A large population-based cross-sectional study using multistage, stratified cluster random sampling. SETTING: Data from the Shanghai Children's Health, Education and Lifestyle Evaluation (SCHEDULE) study in June 2014...
April 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28391271/metabolic-outcomes-bone-health-and-risk-of-polycystic-ovary-syndrome-in-girls-with-idiopathic-central-precocious-puberty-treated-with-gonadotropin-releasing-hormone-analogues
#8
Maria Felicia Faienza, Giacomina Brunetti, Angelo Acquafredda, Maurizio Delvecchio, Antonella Lonero, Alberto Gaeta, Paola Suavo Bulzis, Domenico Corica, Maria Rosa Velletri, Filippo De Luca, Luciano Cavallo, Malgorzata Wasniewska
BACKGROUND/AIMS: Gonadotropin-releasing hormone analogues (GnRHa) represent the gold standard treatment for central precocious puberty (CPP). We aimed to assess the effects of GnRHa treatment on metabolic outcomes, bone status, and polycystic ovary syndrome (PCOS) prevalence in young girls with idiopathic CPP (ICPP). METHODS: We enrolled 94 ICPP girls who were at least 2 years after menarche and had already attained adult height at the time of the study: 56 previously treated with depot triptorelin (3...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28364433/the-relationship-between-estrogen-and-the-decline-in-delta-power-during-adolescence
#9
Andrew W McHill, Elizabeth B Klerman, Bridgette Slater, Tairmae Kangarloo, Piotr W Mankowski, Natalie D Shaw
Study Objectives: During adolescence, there is a precipitous decrease in slow-wave sleep (SWS) and its spectral correlate, delta power, which may reflect cortical reorganization. The temporal association between the decrease in delta power and puberty suggests that sex steroids may initiate these changes. This association has not been previously investigated. Methods: To determine whether estrogen triggers the adolescent decline in delta power, we compared delta power in 14 girls with central precocious puberty (CPP) and 6 age-matched, prepubertal controls...
March 1, 2017: Sleep
https://www.readbyqxmd.com/read/28348072/the-follicle-stimulating-hormone-fsh-and-luteinizing-hormone-lh-response-to-a-gonadotropin-releasing-hormone-analogue-test-in-healthy-prepubertal-girls-aged-10-months-to-6-years
#10
Esben Thyssen Vestergaard, Mia Elbek Schjørring, Konstantinos Kamperis, Karin Kastberg Petersen, Søren Rittig, Anders Juul, Kurt Kritstensen, Niels Birkebæk
OBJECTIVE: Premature thelarche and precocious puberty are frequently diagnosed in girls even below 6 years of age and may be difficult to differentiate in the early stages. A GnRH test is often included in the diagnostic work-up, although interpretation of the GnRH test in girls below 6 years of age is challenging, as no reference interval exists for this age group. The objective is to determine the normal FSH and LH response to a GnRH test in healthy prepubertal girls below 6 years of age...
March 27, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28346917/endocrine-long-term-follow-up-of-children-with-neurofibromatosis-type-1-and-optic-pathway-glioma%C3%A2
#11
Ilaria Sani, Assunta Albanese
BACKGROUND/AIMS: Children with optic pathway glioma (OPG) face sequelae related to tumour location and treatment modalities. We aimed to assess the prevalence of hypothalamic-pituitary dysfunctions in children with neurofibromatosis type 1 (NF1) and OPG who did not receive radiotherapy or surgical resection. The causative role of tumour location on endocrinopathy development is investigated. METHODS: A retrospective follow-up study of 40 children with NF1 and OPG evaluated between August 1996 and May 2015 was undertaken...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28338294/paradoxical-gain-of-function-mutant-of-the-g-protein-coupled-receptor-prokr2-promotes-early-puberty
#12
Maki Fukami, Erina Suzuki, Yoko Izumi, Tomohiro Torii, Satoshi Narumi, Maki Igarashi, Mami Miyado, Momori Katsumi, Yasuko Fujisawa, Kazuhiko Nakabayashi, Kenichiro Hata, Akihiro Umezawa, Yoichi Matsubara, Junji Yamauchi, Tsutomu Ogata
The human genome encodes ~750 G-protein-coupled receptors (GPCRs), including prokineticin receptor 2 (PROKR2) involved in the regulation of sexual maturation. Previously reported pathogenic gain-of-function mutations of GPCR genes invariably encoded aberrant receptors with excessive signal transduction activity. Although in vitro assays demonstrated that an artificially created inactive mutant of PROKR2 exerted paradoxical gain-of-function effects when co-transfected with wild-type proteins, such a phenomenon has not been observed in vivo...
March 24, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28334719/meta-analysis-of-paediatric-patients-with-central-precocious-puberty-treated-with-intramuscular-triptorelin-11-25-mg-3-month-prolonged-release-formulation%C3%A2
#13
Adélaïde Durand, Maithé Tauber, Bharat Patel, Pascale Dutailly
BACKGROUND/AIMS: A meta-analysis was undertaken to assess the effect of triptorelin 11.25 mg 3-month prolonged-release formulation in central precocious puberty (CPP). METHODS: All available clinical studies with triptorelin 11.25 mg were included. The primary outcome was the proportion of children with suppressed luteinising hormone (LH) response (peak LH ≤3 IU/L) to the gonadotrophin-releasing hormone (GnRH) test 3 months after triptorelin 11.25 mg injection...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#14
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 five female members with nonsyndromic CPP...
May 1, 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
#15
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/28251550/the-mystery-of-puberty-initiation-genetics-and-epigenetics-of-idiopathic-central-precocious-puberty-icpp
#16
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
#17
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/28167925/commentary-cognitive-emotional-and-psychosocial-functioning-of-girls-treated-with-pharmacological-puberty-blockage-for-idiopathic-central-precocious-puberty
#18
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
#19
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
#20
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
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