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Central precocious puberty

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https://www.readbyqxmd.com/read/27931036/clinical-exome-sequencing-reveals-mkrn3-pathogenic-variants-in-familial-and-nonfamilial-idiopathic-central-precocious-puberty
#1
Nelmar Valentina Ortiz-Cabrera, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez, Pilar Pérez-Segura, Isabel Aragón-Gómez, María José Trujillo-Tiebas, Leandro Soriano-Guillén
BACKGROUND/AIMS: Idiopathic central precocious puberty (ICPP) is the premature activation of the hypothalamic-pituitary-gonadal axis in the absence of organic disease. Up to now, just gain-of-function mutations of KISS1/KISS1R and loss-of-function mutations of the maternally imprinted gene MKRN3 are the known genetic causes of ICPP. Our intention is to evaluate variants present in genes related to the pubertal onset pathway that could act as disease-causing or predisposing variants. METHODS: We studied the clinical exome of 20 patients diagnosed with ICPP using the Illumina platform...
December 9, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27914139/genetic-variations-of-the-kiss1r-gene-in-korean-girls-with-central-precocious-puberty
#2
Yeon Joung Oh, Young Jun Rhie, Hyo Kyoung Nam, Hye Ryun Kim, Kee Hyoung Lee
The timing of puberty onset varies greatly among individuals, and much of this variation is modulated by genetic factors. This study aimed to identify the kisspeptin receptor (KISS1R) gene variations and to investigate the associations between these variations and central precocious puberty (CPP). Korean girls with CPP (n = 194) and their healthy controls (n = 99) were included in this study. The entire coding region and the exon-intron boundaries (exon 1 through 5) of the KISS1R gene were directly sequenced...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27897024/-peripheral-precocious-puberty
#3
J Zvonařová Skalická, R Pilka
OBJECTIVE: To summarize literature data on peripheral precocious puberty. DESIGN: A literature review. SETTING: Středomoravská nemocniční a.s., hospital Šternberk, Department of Obstetrics and Gynaecology, University Hospital, Medical Faculty, Palacky University, Olomouc. METHODS AND RESULTS: We searched in PubMed using the key words stated below according to date and published since 1980.Peripheral precocious puberty occurs in girls with the frequency 1:400-1000...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#4
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27798941/two-frameshift-mutations-in-mkrn3-in-turkish-patients-with-familial-central-precocious-puberty
#5
Enver Simsek, Meliha Demiral, Serdar Ceylaner, Birgul Kırel
BACKGROUND: Little is known about the genetic causes responsible for idiopathic central precocious puberty (iCPP). More recently, described loss-of-function mutations in the makorin ring finger protein 3 (MKRN3) gene have been demonstrated to be involved in the pathogenesis of familial iCPP. AIM: The objective of this study was to investigate the potential role of MKRN3 in patients with familial iCPP. METHODS: We investigated potential sequence variations in the maternal imprinted MKRN3 gene using Next Generation Sequencing (NGS) analysis in 31 participants from 2 families (6 participants were diagnosed with familial iCPP on the basis of clinical and hormonal findings)...
November 1, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27771678/central-or-peripheral-precocious-puberty-diagnostic-difficulties
#6
María Eugenia López Valverde, Ana Villamañán Montero, Aránzazu Garza Espí, Antonio de Arriba Muñoz
BACKGROUND: An underlying identifiable organic cause is present in up to 50% cases of central precocious puberty in male patients. CASE CHARACTERISTICS: A 7-years-8-months-old presented with delayed puberal development. Analytical examinations showed suppressed basal and stimulated levels of testosterone, LH and FSH. Abdominal ultrasound and contrast cranial magnetic resonance results were initially negative. OUTCOME: Germinoma was found on cranial computer tomography...
October 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27740929/monitoring-treatment-of-central-precocious-puberty-using-basal-luteinizing-hormone-levels-and-practical-considerations-for-dosing-with-a-3-month-leuprolide-acetate-formulation
#7
Peter A Lee, Margaret Luce, Peter Bacher
BACKGROUND: Peak gonadotropin-releasing hormone or agonist (GnRHa) stimulated luteinizing hormone (LH) testing with leuprolide acetate (LA) is commonly used to document suppression during therapy for central precocious puberty (CPP). The objective of the study was to investigate suitability of using basal LH levels to monitor GnRHa treatment and to determine optimal transition from 1-month to 3-month LA formulations via a post hoc analysis of a randomized, open-label, 6-month study. METHODS: A total of 42 children with CPP, pretreated with 7...
October 14, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27721839/effects-of-early-menarche-on-physical-and-psychosocial-health-problems-in-adolescent-girls-and-adult-women
#8
Jae-Ho Yoo
The menarcheal age of Korean women has been rapidly decreasing for the last 50 years, and the average menarcheal age of women born in the 1990s is approaching 12.6 years. In addition, interest in early puberty has been increasing recently owing to the rapid increase in precocious puberty. Generally, out of concern for short stature and early menarche, idiopathic central precocious puberty in female adolescents is treated with gonadotropin-releasing hormone analogs. Studies to date have described the association between early menarche and psychosocial problems such as delinquency and risky sexual behavior, as well as physical health problems such as obesity, diabetes, cardiovascular diseases, and breast cancer throughout the lifespan of women...
September 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27662834/age-at-menarche-in-korean-adolescents-trends-and-influencing-factors
#9
Mee-Hwa Lee, Shin Hye Kim, Minkyung Oh, Kuk-Wha Lee, Mi-Jung Park
BACKGROUND: An increased incidence of central precocious puberty has been recently reported in South Korea, which suggests an ongoing downward trend in pubertal development in the Korean population. We aimed to verify the trend in age at menarche in young Korean women during the last decade and associated factors. METHODS: We analyzed a population-based sample of 3409 Korean girls, aged 10-18 years, using data from the Korean National Health and Nutrition Examination Surveys (KNHANES) II (2001), III (2005), IV (2007-2009), and V (2010 and 2011)...
2016: Reproductive Health
https://www.readbyqxmd.com/read/27649574/a-case-of-mecp2-duplication-syndrome-with-gonadotropin-dependent-precocious-puberty
#10
Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Kenji Kurosawa, Kenichi Kashimada, Tomohiro Morio
BACKGROUND: MECP2 duplication syndrome, which is caused by duplication of part of the Xq28 region containing the MECP2 gene, causes intellectual disability and mild dysmorphic features in males. To date, precocious puberty has not been reported as a clinical feature of MECP2 duplication syndrome. METHODS: A 6-year-old male with severe intellectual disability was referred because of growth acceleration and precocious puberty. We checked his hormonal profile and conducted imaging studies and an array comparative genomic hybridization analysis...
September 21, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27648561/nr0b1-frameshift-mutation-in-a-boy-with-idiopathic-central-precocious-puberty
#11
Hirohito Shima, Shuichi Yatsuga, Akie Nakamura, Shinichiro Sano, Takako Sasaki, Noriyuki Katsumata, Erina Suzuki, Kenichiro Hata, Kazuhiko Nakabayashi, Yukihide Momozawa, Michiaki Kubo, Kohji Okamura, Shigeo Kure, Yoichi Matsubara, Tsutomu Ogata, Satoshi Narumi, Maki Fukami
NR0B1 is the causative gene for X-linked adrenal hypoplasia congenita, characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and infertility. We identified an NR0B1 frameshift mutation in a boy with precocious puberty who had no signs of adrenal insufficiency. Blood examination revealed elevated testosterone levels and gonadotropin hyperresponses to gonadotropin releasing hormone (GnRH) stimulation, together with normal adrenal hormone levels. GnRH analog treatment partially ameliorated his clinical features...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/27646495/prospective-study-of-hypothalamo-hypophyseal-dysfunction-in-children-and-adolescents-following-traumatic-brain-injury
#12
David Krahulik, Darina Aleksijevic, Vratislav Smolka, Eva Klaskova, Petra Venhacova, Miroslav Vaverka, Vladimir Mihal, Jirina Zapletalova
BACKGROUND AND AIMS: Retrospective studies of TBI have found a neuroendocrine dysfunction following traumatic brain injury in 23 to 60% of adults and 15 to 21% of children. Our aims were to determine the prevalence of hypothalamo-hypophyseal dysfunction in children following brain injury, assess its relationship to the type of injury and the course of the acute post-traumatic phase. PATIENTS AND METHODS: Body development (growth, pubertal development, and skeletal maturity) were evaluated in 58 patients (21 girls) after a brain injury rated 3 to 12 on the Glasgow Coma Scale (GCS)...
September 19, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/27640350/males-with-paternally-inherited-mkrn3-mutations-may-be-asymptomatic
#13
Mihaela S Dimitrova-Mladenova, Elisaveta M Stefanova, Maria Glushkova, Albena P Todorova, Tihomir Todorov, Maia M Konstantinova, Krasimira Kazakova, Radka S Tincheva
Ten girls with sporadic central precocious puberty were screened for mutations in the maternally imprinted gene MKRN3. We detected 1 novel frameshift mutation (p.Arg351Serfs*44) and a previously described mutation (p.Pro161Argfs*10). In the course of investigating the family, genetic analysis found 2 asymptomatic males with paternally inherited MKRN3 mutations, which has not been reported in previous studies.
September 15, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27633569/17p13-3-microduplication-including-crk-leads-to-overgrowth-and-elevated-growth-factors-a-case-report
#14
Rohan K Henry, Caroline Astbury, Constantine A Stratakis, Scott E Hickey
17p13.3 microduplications classified as class I duplications involving YWHAE but not PAFAH1B1 (formerly LIS1) and class II duplications which extend to involve PAFAH1B1, are associated with diverse phenotypes including intellectual disability and structural brain malformations. We report a girl with an approximately 1.58 Mb apparently terminal gain of 17p13.3, which contains more than 20 genes including the YWHAE and CRK genes (OMIM: 164762). She had increased growth factors accompanied by pathologic tall stature...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27624871/familial-early-puberty-presentation-and-inheritance-pattern-in-139-families
#15
Adélaïde Durand, Anu Bashamboo, Ken McElreavey, Raja Brauner
BACKGROUND: The mechanism that initiates the onset of puberty is largely unknown but the age of onset is mainly under genetic control and influenced by environmental factors including nutrition. The coexistence in the same family of central precocious puberty and advanced puberty, both representing early puberty, suggests that they may represent a clinical spectrum of the same trait due to early activation of the GnRH pulse generator. We therefore evaluated the mode of inheritance of early puberty in a large series of familial cases...
2016: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/27603324/a-6-month-trial-of-the-efficacy-and-safety-of-triptorelin-pamoate-11-25-mg-every-3-months-in-children-with-precocious-puberty-a-retrospective-comparison-with-triptorelin-acetate
#16
Delphine Zenaty, Joelle Blumberg, Nilani Liyanage, Evelyne Jacqz-Aigrain, Najiba Lahlou, Jean-Claude Carel
BACKGROUND/AIMS: To evaluate the efficacy and safety of a triptorelin pamoate (11.25 mg) 3-month formulation in the management of central precocious puberty (CPP) (TP Study) and to retrospectively compare it with a triptorelin acetate (11.25 mg) 3-month formulation (TA Study). METHODS: We conducted two phase III, multicentre, single-stage, non-comparative, open-label studies. In the TP Study, patients with CPP received an intramuscular injection of triptorelin pamoate 11...
September 7, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27537588/postnatal-sellar-spine-growth-a-case-report-and-literature-review
#17
Takahiro Hosokawa, Yoshitake Yamada, Yumiko Sato, Yutaka Tanami, Jun Kurihara, Eiji Oguma
BACKGROUND: A sellar spine is a bony spur protruding anteriorly from the central portion of the dorsum sellae. Its etiology is an ossified notochordal remnant of the cephalic end of the notochord. It is presumed to be a congenital malformation based on magnetic resonance imaging (MRI) findings of sellar spine in a 4-year-old boy. A sellar spine should therefore be detectable at birth with or without ossification, and the posterior pituitary lobe should be displaced. METHODS AND RESULTS: Here we review the literature and report the first case of typical sellar spine in an 8-year-old girl who presented with precocious puberty, but her MRI taken at age 4 months for a febrile convulsion did not show a sellar spine or posterior pituitary lobe deformation...
August 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27529349/changes-in-body-mass-index-in-girls-with-idiopathic-central-precocious-puberty-under-gonadotropin-releasing-hormone-analogue-therapy-the-spanish-registry
#18
Raquel Corripio, Leandro Soriano-Guillén, Francisco-Javier Herrero, Ramón Cañete, Lidia Castro-Feijoó, Aránzazu Escribano, Rafael Espino, José-Ignacio Labarta, Jesús Argente
BACKGROUND: The influence of gonadotropin-releasing hormone analogue (GnRHa) treatment on body mass index (BMI) evolution in girls with idiopathic central precocious puberty (CPP) is unclear. Hence, we aimed to evaluate the effect of GnRHa treatment on BMI-standard deviation score (SDS) from diagnosis of idiopathic CPP until adult height. METHODS: An observational study of girls diagnosed with CPP in Spain was carried out between January 2008 and December 2014. A computer program was designed to process clinical and biological data from patients treated in 55 departments of pediatric endocrinology throughout the country...
August 13, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27519634/prepubertal-exposure-to-an-oestrogenic-mycotoxin-zearalenone-induces-central-precocious-puberty-in-immature-female-rats-through-the-mechanism-of-premature-activation-of-hypothalamic-kisspeptin-gpr54-signaling
#19
Rong Yang, Yi-Mei Wang, Li Zhang, Zeng-Ming Zhao, Jun Zhao, Shuang-Qing Peng
Sporadic epidemics and several researches in rodents indicated that zearalenone (ZEA) and its metabolites, the prevailing oestrogenic mycotoxins in foodstuffs, were a triggering factor for true precocious puberty development in girls. Nevertheless, the neuroendocrine mechanism through which ZEA mycoestrogens advance puberty onset is not fully understood. To elucidate this issue, hypothalamic kisspeptin-G-protein coupled receptor-54 (GPR54) signaling pathway that regulates the onset of puberty was focused on in the present study...
December 5, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27506760/clinical-and-endocrine-characteristics-and-genetic-analysis-of-korean-children-with-mccune-albright-syndrome-a-retrospective-cohort-study
#20
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho, Dong-Kyu Jin
BACKGROUND: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. METHODS: Patients' clinical data-including peripheral PP, FD, and other endocrine problems-were reviewed retrospectively...
2016: Orphanet Journal of Rare Diseases
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