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Central precocious puberty

Zehra Aycan, Şenay Savaş-Erdeve, Semra Çetinkaya, Erdal Kurnaz, Melikşah Keskin, Nursel Muratoğlu Şahin, Elvan Bayramoğlu, Gülay Ceylaner
OBJECTIVE: Little is known about the genetic cause of idiopathic central precocious puberty (CPP). The aim of this clinical study was to determine the rate of MKRN3 mutation in cases of familial idiopathic central precocious puberty. METHODS: Potential sequence variations in the maternally imprinted MKRN3 gene were evaluated in 19 participants from 10 families using next-generation sequencing (NGS) analysis. RESULTS: In the whole group, the novel heterozygous mutation NM_005664...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
Xiaoduo Wen, Denggui Wen, Hui Zhang, Huifeng Zhang, Yi Yang
Rapid and noninvasive diagnosis on and differentiation between normal, central precocious puberty (CPP), and isolated precocious puberty (IPP) is imperative before a decision can be made with gonadotropin-releasing hormone (GnRH) agonist treatment. Our study aims to evaluate such a role by pelvic ultrasound.We consecutively enrolled 84 cases of IPP (59 with premature thelarche/ pubarche and 25 with premature menarche), 47 CPP, and 177 age-matched normal controls. The IPP and CPP were diagnosed by clinical examination and GnRH-stimulation test and confirmed by over 2 years' follow-up...
March 2018: Medicine (Baltimore)
Monica Moresco, Fabio Pizza, Elena Antelmi, Giuseppe Plazzi
Narcolepsy type 1 (NT1) is a rare chronic neurologic disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations and disrupted nocturnal sleep, usually with onset during childhood/adolescence. Pediatric NT1 is associated with limitations on children's activities and achievements, especially poor performance at school, difficulty with peers due to disease symptoms and comorbidities including depression, obesity, and precocious puberty. NT1 disease is caused by the selective loss of hypocretin-producing neurons in the lateral hypothalamus, most probably related to an autoimmune pathophysiology...
March 5, 2018: Current Drug Metabolism
Hwal Rim Jeong, Hae Sang Lee, Jin Soon Hwang
BACKGROUND: Luteinizing hormone (LH) is a useful parameter in diagnosing precocious puberty. The pubertal response of serum LH to a GnRH stimulation test is varied, and clinical symptoms of precocious puberty are sometimes disproportionate with serum LH concentrations. Many patients present in a state of precocious puberty that advances rapidly, but the post-GnRH peak LH remains prepubertal. LH receptor mutations are suspected of involvement in the non-classic type of central precocious puberty (CPP)...
March 5, 2018: Experimental and Clinical Endocrinology & Diabetes
Y Ganie, C Aldous, Y Balakrishna, R Wiersma
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. OBJECTIVE: To evaluate the prevalence of CAH due to 21-OH deficiency, and its clinical presentation and biochemical profiles in affected children. METHODS: We performed a retrospective subset analysis of 44 children with confirmed CAH. RESULTS: All the children had classic CAH...
February 1, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Charles Sultan, Laura Gaspari, Laurent Maimoun, Nicolas Kalfa, Françoise Paris
Over the past 20 years, a clear secular trend toward the earlier onset of puberty has been described. A better knowledge should help clinicians attempting to define both precocious and delayed puberty (PP and DP, respectively). The definition of PP for girls is the appearance of secondary sex characteristics development before the age of 8 years, while DP is based on the absence of thelarche at the age of 13 years. Regarding PP, one should clinically distinguish between true precocious puberty, i.e., complete or central PP, and incomplete PP, which refers to premature thelarche, premature pubarche, and isolated menarche...
November 14, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
Min Sun Kim, Pyoung Han Hwang, Dae-Yeol Lee
A small percentage of individuals have the neurological anomaly of central precocious puberty (CPP). Common neurologic causes of CPP include a tumor or congenital lesions. Although Arnold-Chiari malformation can be caused by congenital or acquired causes, it is unusual in patients with CPP. We present the case of a girl aged 4.5 years who complained of breast budding. Her neurological examination and growth pattern were normal. She had no endocrinological abnormality, except for true precocious puberty. We performed brain magnetic resonance imaging, which showed an Arnold-Chiari type 1 malformation...
January 2018: Korean Journal of Family Medicine
Aditi Khokhar, Angela Mojica
Premature thelarche is a benign condition that affects young girls and may be interpreted as a sign of central precocious puberty (CPP). Parental concern is common when breast development is noted in a young girl. It is important to differentiate premature thelarche from CPP, as the latter is a more serious disorder that may affect final adult height and menarcheal age, and may have psychological implications as well. Distinguishing between the two conditions clinically may help the patients avoid unnecessary testing...
January 1, 2018: Pediatric Annals
Laura Novello, Phyllis W Speiser
Adrenarche is when a child's adrenal cortex starts to secrete adrenal androgen precursors. Dehydroepiandrosterone (DHEA) is the most abundant product of the adrenal cortex, and is a weak androgen agonist thought to be responsible for the clinical signs of pubarche by conversion to more potent androgens, testosterone, and dihydrotestosterone. DHEA's extra-adrenal sulfation product, dehydroepiandrosterone sulfate, is a stable marker for adrenal androgenic activity. Pubarche is the physical manifestation of androgenic hormone production, and includes the development of pubic and axillary hair, adult body odor, and acne...
January 1, 2018: Pediatric Annals
Yanqin Ying, Jing Tang, Wei Chen, Zemin Cai, Wan Ting Niu
Object: To study the outcomes of GnRHa on final adult height in Chinese idiopathic central precocious puberty (ICPP) girls and the involved factor(s) that can predict height gain. Methods: We conducted a retrospective analysis on 10 years of data obtained from three clinical hospitals from January 2005 to March 2015, and 101 girls with ICPP, who received GnRHa therapy for more than six months and already reached their adult height were enrolled. Results: Height, bone age, midparent height, HtSDS, sexual development, therapy duration and predicted adult height(PAH)at start and end of GnRHa, and the final adult height(FAH) were recorded and calculated...
December 12, 2017: Oncotarget
Jong Wan Yoon, Hyun A Park, Jieun Lee, Jae Hyun Kim
Purpose: The potential effect of gonadotropin-releasing hormone agonist (GnRHa) treatment on the weight of girls with central precocious puberty (CPP) remains a controversy. We investigated anthropometric changes during and after GnRHa treatment among girls with CPP. Methods: This retrospective study evaluated data from 127 girls with CPP who received GnRHa treatment for ≥2 years. Height, weight, and body mass index (BMI) values were compared at the baseline (visit 1), after 1 year of GnRHa treatment (visit 2), the end of GnRHa treatment (visit 3), and 6-12 months after GnRHa discontinuation (visit 4)...
December 2017: Korean Journal of Pediatrics
Hye Ryun Kim, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee
PURPOSE: This study investigated the influence of obesity on the clinical course and effect of gonadotropin-releasing hormone analog (GnRHa) treatment in girls with central precocious puberty (CPP). METHODS: Medical records of 182 girls with CPP treated with GnRHa were reviewed. They were divided into 2 groups: normal weight (n=108) and overweight/obesity (n=74). Chronological age (CA), bone age (BA), difference between BA and CA (BA-CA), standard deviation score (SDS) of height, body mass index (BMI), predicted adult height (PAH), and laboratory findings were compared at baseline, after 1 year, and at the end of GnRHa treatment in both groups...
December 2017: Annals of Pediatric Endocrinology & Metabolism
Abdullah Bereket
Central precocious puberty (CPP) is a diagnosis that pediatric endocrinologists worldwide increasingly make in girls of age 6-8 years and is mostly idiopathic. Part of the reason for increasing referral and diagnosis is the perception among the doctors as well as the patients that treatment of CPP with long-acting gonadotropin-releasing hormon analogues (GnRHa) promote height of the child. Although, the timing and the tempo of puberty does influence statural growth and achieved adult height, the extent of this effect is variable depending on several factors and is modest in most cases...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
Nicos Skordis, Eleana Ferrari, Aria Antoniadou, Leonidas A Phylactou, Pavlos Fanis, Vassos Neocleous
This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Molecular testing did not identify any genetic defect in any of the genes tested (KISS1, KISS1R, DLK1 and the intronless MKRN3). Though previous studies have shown a link between karyotype 47,XXX and precocious puberty, this is the youngest patient reported so far...
July 2017: Hormones: International Journal of Endocrinology and Metabolism
Lan-Fen Yi, Hong-Xia Wen, Mei Qiu, Xiao-Xiao Cao
OBJECTIVE: To investigate the cardiac autonomic nerve function in girls with idiopathic central precocious puberty (ICPP). METHODS: A total of 66 girls with ICPP were enrolled, among whom 36 were obese and 30 were not obese. A total of 68 age-matched healthy girls (normal controls) and 51 girls with simple obesity were enrolled as controls. All the subjects underwent 24-hour ambulatory electrocardiography, and deceleration capacity of heart rate (DC), acceleration capacity of heart rate (AC), and heart rate variability (HRV), and body mass index (BMI) were compared between groups...
December 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Huda A Osman, Nasir A M Al-Jurayyan, Amir M I Babiker, Hessah M N Al-Otaibi, Reem D H AlKhalifah, Sharifah D A Al Issa, Sarar Mohamed
Precocious puberty is a developmental process that gives rise to secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. In general, precocious puberty can be classified as central or peripheral. This is a retrospective hospital-based study was conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia, during the period January 1990 and December 2016. Data were abstracted from the medical records of patients diagnosed with precocious puberty, with special emphasis on age, sex, clinical characteristics, and relevant hormonal assay...
2017: Sudanese Journal of Paediatrics
Khomsak Srilanchakon, Thawiphark Thadsri, Chutima Jantarat, Suriyan Thengyai, Wichit Nosoognoen, Vichit Supornsilchai
BACKGROUND: The cause of precocious puberty may be associated with genetics and other conditions such as central nervous system (CNS) insults, or the exposure to endocrine disrupting chemicals (EDCs). Phthalates is known to be one of the EDCs and have estrogenic and antiandrogenic activities, and may be associated with advanced puberty. The objective of the study was to determine the association between urinary phthalate metabolites and advanced puberty. METHODS: A cross-sectional study was conducted in patients with precocious puberty (breast onset <8 years, n=42) and early puberty (breast onset 8-9 years, n=17), compared to age-matched controls (n=77)...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
Huifang Liu, Xiangxin Kong, Fengling Chen
Central precocious puberty (CPP) is attributed to the disorder of some trigger factors those can activate the hypothalamic-pituitary-gonadal axis controlled by GnRH neurons. Many recent studies reveal one of those trigger factors, Makorin ring finger protein 3 (Mkrn3), whose loss-of-function mutations are implicated in CPP. Although Mkrn3 contained zinc Ring finger domain is considered as a putative E3 ubiquitin ligase, its actual function is never reported. Here, our results demonstrated that in mice hypothalamus before and when puberty initiated, Mkrn3 expressed the reversed tendency with Nptx1, which is an important secreted protein for neuron development...
October 17, 2017: Oncotarget
Yuanyuan He, Wen Sun, Jian Yu
The up-regulation and down-regulation of gonadotropin-releasing hormone (GnRH) in central precocious puberty is not yet known. However, recent advances in neuroendocrinology have shown the controlling role of arginine-phenylalanine RF-amide-related peptides (RFRPs) on GnRH secretion in different phenomenon of reproduction such as estrus cycle and pregnancy, but the exact role of RFRPs in puberty and its related pathologic condition, precocious puberty, is not clear yet. This paper hypothesizes that RFRP is a regulatory peptide of puberty and might prevent the precocious puberty...
October 2017: Iranian Journal of Basic Medical Sciences
Chantacha Sitticharoon, Maynart Sukharomana, Supawadee Likitmaskul, Malika Churintaraphan, Pailin Maikaew
The aim of the present study was to compare serum leptin, kisspeptin, total adiponectin, high molecular weight (HMW) adiponectin and neuropeptide Y (NPY) levels between girls with central precocious puberty (CPP; n=26, 7-9.5 years old) and age-matched controls (n=29) including or excluding obese girls. Leptin and NPY levels were comparable between CPP and control girls. Kisspeptin levels were lower in the CPP than control group, and were positively correlated with oestrogen in the control group and with systolic and diastolic blood pressure in the CPP group...
November 2017: Reproduction, Fertility, and Development
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