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Central precocious puberty

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
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
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
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
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
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
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
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
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
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
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)
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
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
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
A J Arcari, M G Gryngarten, A V Freire, M G Ballerini, M G Ropelato, I Bergadá, M E Escobar
BACKGROUND: In girls with Idiopathic Central Precocious Puberty (ICPP) concern has been raised by the potential impact of GnRH-analogues (GnRHa) treatment on body weight. We evaluated the effect of GnRHa on Body Mass Index (BMI) in girls with ICPP according to weight status at diagnosis. METHODS: One hundred seventeen ICPP girls were divided according to pretreatment weight status in: normal weight (NW), overweight (OW) and obese (OB). BMI at one and two years of treatment was assessed...
2016: International Journal of Pediatric Endocrinology
Young-Lim Shin
Central precocious puberty (CPP) is caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, nutritional, and environmental factors play a crucial role in determining pubertal timing. Recently mutations in kisspeptin (KISS1), kisspeptin receptor (KISS1R), and makorin RING finger protein 3 (MKRN3) genes have been identified as genetic causes of CPP. In particular, the MKRN3 gene is known to affect pubertal initiation. The MKRN3 gene is located on chromosome 15q11-q13 in the Prader-Willi syndrome (PWS) critical region...
June 2016: Annals of Pediatric Endocrinology & Metabolism
Slawomir Wojniusz, Nina Callens, Stefan Sütterlin, Stein Andersson, Jean De Schepper, Inge Gies, Jesse Vanbesien, Kathleen De Waele, Sara Van Aken, Margarita Craen, Claus Vögele, Martine Cools, Ira R Haraldsen
Central precocious puberty (CPP) develops due to premature activation of the hypothalamic-pituitary-gonadal (HPG) axis, resulting in early pubertal changes and rapid bone maturation. CPP is associated with lower adult height and increased risk for development of psychological problems. Standard treatment of CPP is based on postponement of pubertal development by blockade of the HPG axis with gonadotropin releasing hormone analogs (GnRHa) leading to abolition of gonadal sex hormones synthesis. Whereas the hormonal and auxological effects of GnRHa are well-researched, there is a lack of knowledge whether GnRHa treatment influences psychological functioning of treated children, despite the fact that prevention of psychological problems is used as one of the main reasons for treatment initiation...
2016: Frontiers in Psychology
Ayşe Derya Buluş, Ali Aşci, Pinar Erkekoglu, Aylin Balci, Nesibe Andiran, Belma Koçer-Gümüşel
Exposure to environmental chemicals can affect genetic and epigenetic molecular pathways and may cause altered growth and development. Among those exposures, endocrine-disrupting chemicals (EDCs) are of particular concern as humans are abundantly exposed to these chemicals by various means in every period of life. Several well-known environmental chemicals, including phthalates and bisphenol A (BPA), are classified as EDCs. These EDCs are suggested to play roles in early onset of puberty in girls. The aim of this study is to determine plasma phthalate (di(2-ethylhexyl)phthalate [DEHP] and its main metabolite mono(2-ethylhexyl)phthalate [MEHP]) and urinary BPA levels in girls with idiopathic central precocious puberty (CPP) and peripheral precocious puberty (PPP)...
July 25, 2016: Toxicology Mechanisms and Methods
Hae Sang Lee, Jong Seo Yoon, Jung Ki Roh, Jin Soon Hwang
Gonadotropin-releasing hormone agonists (GnRHa) have been widely used for decades to treat patients with central precocious puberty (CPP). Several studies have investigated changes in body composition in patients with CPP following GnRHa treatment, but the results are inconsistent. The aim of this study was to investigate changes in body mass index (BMI) in children treated with GnRHa for 2 years. We also assessed whether BMI affects treatment outcomes. This study included 383 girls (214 girls with central precocious puberty and 169 girls who underwent early puberty) treated with depot leuprolide acetate monthly for at least 2 years...
July 22, 2016: Endocrine
Monica F Stecchini, Delanie B Macedo, Ana Claudia S Reis, Ana Paula Abreu, Ayrton C Moreira, Margaret Castro, Ursula B Kaiser, Ana Claudia Latronico, Sonir R Antonini
BACKGROUND: Loss-of-function mutations in the imprinted gene MKRN3 represent the most common known genetic defects associated with central precocious puberty (CPP). METHODS: We report the first case of a girl carrying an MKRN3 mutation detected in childhood and followed until the development of pubertal signs. RESULTS: The girl was screened at the age of 4 years because of a positive family history; her sister had developed CPP at 6 years of age and was found to harbor the MKRN3 p...
July 16, 2016: Hormone Research in Pædiatrics
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