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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/27928728/clinical-perspectives-in-congenital-adrenal-hyperplasia-due-to-11%C3%AE-hydroxylase-deficiency
#2
REVIEW
Krupali Bulsari, Henrik Falhammar
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens...
December 7, 2016: Endocrine
https://www.readbyqxmd.com/read/27914139/genetic-variations-of-the-kiss1r-gene-in-korean-girls-with-central-precocious-puberty
#3
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/27903360/-update-on-pubertal-development-among-primary-school-students-in-shanghai-2014
#4
Y Chen, Y T Zhang, C Chen, Y R Jiang, Y J Song, S J Liu, F Jiang
Objective: To investigate the current prevalence of pubertal development in healthy Shanghai schoolchildren. Methods: This study was a cross-sectional investigation focused on current pubertal development conducted in healthy Shanghai schoolchildren by multi-stage cluster sampling. The sample included 17 571 children in grades 1-5 investigated in June 2014. The data were weighted by inverse probability weighting (IPW) to make them more representative. At examination, stages of breast and pubic hair development were rated according to the Tanner method...
November 6, 2016: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/27897024/-peripheral-precocious-puberty
#5
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/27893173/bmp15l-figla-smc1bl-and-larp6l-are-preferentially-expressed-in-germ-cells-in-atlantic-salmon-salmo-salar-l
#6
Lene Kleppe, Rolf Brudvik Edvardsen, Tomasz Furmanek, Eva Andersson, Amélie Juanchich, Anna Wargelius
Atlantic salmon is a valuable commercial aquaculture species that would benefit economically and environmentally by controlling precocious puberty and preventing escapees from reproducing with wild populations. One solution to both these challenges is the production of sterile individuals by inhibiting the formation of germ cells, but achieving this requires more information on the specific factors that control germ cell formation. Here, we identified and characterized novel factors that are preferentially expressed in Atlantic salmon germ cells by screening for gonad-specific genes using available adult multi-tissue transcriptomes...
November 7, 2016: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/27827292/infection-and-pubertal-timing-a-systematic-review
#7
J A McDonald, S M Eng, O O Dina, C M Schooling, M B Terry
The decline in age of pubertal timing has serious public health implications ranging from psychosocial adjustment problems to a possible increase in reproductive cancers. One biologically plausible explanation for the decline is a decrease in exposures to infections. To systematically review studies that assess the role of infection in pubertal timing, Medline, Web of Science and EMBASE were systematically searched and retrieved studies were reviewed for eligibility. Eligible studies examined the association between infections, including microbial exposures, and physical pubertal characteristics (breast, genitalia and pubic hair development) or age at menarche...
December 2016: Journal of Developmental Origins of Health and Disease
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
#8
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
#9
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/27777908/body-image-and-depression-in-girls-with-idiopathic-precocious-puberty-treated-with-gonadotropin-releasing-hormone-analogue
#10
Min-Seon Choi, Eun-Young Kim
PURPOSE: Precocious puberty (PP) is associated with psychological and behavioral problems. This study aimed to evaluate the perception of body image and depression in girls with PP receiving gonadotropin-releasing hormone (GnRH) analogue therapy. METHODS: From March to August 2013, 82 girls with PP receiving GnRH analogue therapy were enrolled. Height, weight, body mass index, and stages of pubertal development were assessed. Participants completed a series of questionnaires on their body image perception and pubertal self-assessment...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777905/etiology-and-therapeutic-outcomes-of-children-with-gonadotropin-independent-precocious-puberty
#11
Eungu Kang, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27773621/testis-sparing-surgery-for-leydig-cell-pathologies-in-children
#12
Senol Emre, Rahsan Ozcan, Mehmet Elicevik, Haluk Emir, Yunus Soylet, Cenk Buyukunal
OBJECTIVE: The aim was to analyze testis-sparing surgical procedures in boys with Leydig cell pathologies. STUDY DESIGN: The hospital records of four boys with Leydig cell hyperplasia who underwent testis-sparing surgery for testicular masses between 2000 and 2012 were analyzed retrospectively. Tumor markers were evaluated and all boys underwent scrotal ultrasonography preoperatively. The hormonal profile was also analyzed for symptoms of precocious puberty. The testis was delivered through a high transverse inguinal incision and the tumor was excised by enucleation...
October 11, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27771678/central-or-peripheral-precocious-puberty-diagnostic-difficulties
#13
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
#14
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
#15
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/27707443/growing-up-with-type-1-narcolepsy-its-anthropometric-and-endocrine-features
#16
Virginia Ponziani, Monia Gennari, Fabio Pizza, Antonio Balsamo, Filippo Bernardi, Giuseppe Plazzi
STUDY OBJECTIVES: To evaluate the effect of type 1 narcolepsy (NT1) on anthropometric and endocrine features in childhood/adolescence, focusing on patterns and correlates of weight, pubertal development, and growth in treated and untreated patients. METHODS: We collected anthropometric (height, weight, body mass index (BMI) z-scores), pubertal, metabolic, and endocrine data from 72 NT1 patients at diagnosis and all available premorbid anthropometric parameters of patients from their pediatric files (n = 30)...
September 29, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27702598/juvenile-granulosa-cell-tumor-of-the-ovary-a-clinicopathologic-study
#17
Hao Wu, Stephanie A Pangas, Karen W Eldin, Kalyani R Patel, John Hicks, Jennifer E Dietrich, Rajkumar Venkatramani
STUDY OBJECTIVE: To report on the clinical characteristics and outcome of pediatric patients with juvenile granulosa cell tumor (JGCT) of the ovary. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: Patients with histopathologically confirmed ovarian JGCT diagnosed between 1990 and 2016 were identified. Data on the clinical presentation, surgical management, oncologic management, laboratory investigation, follow-up, and outcome were collected. Tumors were staged according to the International Federation of Gynecology and Obstetrics criteria...
October 1, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27702404/-fibrous-dysplasia-a-heterogeneous-disease
#18
B C J Majoor, N M Appelman-Dijkstra, M A J van de Sande, H M Kroon, N A T Hamdy, P D S Dijkstra
Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27692159/could-tea-polyphenols-be-beneficial-for-preventing-the-precocious-puberty
#19
Youmei Wu, Jialu Wang, Wei Cai, Xiuhua Shen
Precocious puberty which impacts children physically and psychologically has become one of the health problem over the world. However, the mechanism and preventive measures of precocious puberty is still not clear. Recent studies suggested that leptin may act as the 'permissive factor' to initiate the puberty by regulating gonadotrophin-releasing hormone secretion. Previous evidence from animal and human studies found that tea polyphenols can reduce serum leptin levels in vivo and inhibit the expression of leptin in adipose tissue...
October 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27666809/peripheral-precocious-puberty-due-to-functioning-adrenocortical-tumor-description-of-two-cases
#20
Lucia Ferrito, Giovanni Cobellis, Diana Giobbi, Cecilia Proietti Pannunzi, Antonio Iannilli, Valentino Cherubini
BACKGROUND: Adrenocortical tumors (ACTs) represent less than 0.2% of all childhood neoplasms. Frequent clinical manifestations are virilization, hypercortisolism and peripheral precocious puberty (PPP). CASES: We describe two cases in which ACTs were responsible for virilization (case 1) and PPP (case 2) in pre-pubertal girls. In both cases an ACT diagnosis was made after 5-6 months from the first appearance of clinical signs, surgery was performed within 1 month of diagnosis and the benign nature of tumors was histologically confirmed...
September 22, 2016: Journal of Pediatric and Adolescent Gynecology
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