Gilda Belli, Emanuele Bartolini, Andrea Bianchi, Mario Mascalchi, Stefano Stagi
Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system. We report a female child affected by MLD who developed central precocious puberty (CPP). This association has not been described so far. The proposita, after normal growth and psychomotor development, at age of 30 months presented with a rapidly progressive gait disturbance with frequent falls and with loss of acquired language skills...
2018: Frontiers in Endocrinology
Philip D Oddie, Benjamin B Albert, Paul L Hofman, Craig Jefferies, Stephen Laughton, Philippa J Carter
Adrenocortical carcinoma (ACC) during childhood is a rare malignant tumor that frequently results in glucocorticoid and/or androgen excess. When there are signs of microscopic or macroscopic residual disease, adjuvant therapy is recommended with mitotane, an adrenolytic and cytotoxic drug. In addition to the anticipated side effect of adrenal insufficiency, mitotane is known to cause gynecomastia and hypothyroidism in adults. It has never been reported to cause precocious puberty. A 4-year-old girl presented with a 6-week history of virilization and elevated androgen levels and 1-year advancement in bone age...
2018: Endocrinology, Diabetes & Metabolism Case Reports
Hae Sang Lee, Jong Seo Yoon, Kyu Jung Park, Jin Soon Hwang
OBJECTIVE: Gonadotropin-releasing hormone agonists (GnRHa) are the treatment of choice for central precocious puberty (CPP) and have been widely used for several decades. We determined the effect of GnRHa treatment on the auxological outcomes of girls with idiopathic CPP. METHODS: This study included 84 girls treated monthly with depot leuprolide acetate who had reached adult height. We compared their final adult height (FAH) with their initial predicted adult height (PAH)...
2018: PloS One
Zhi-Jie Gao, Qian Jiang, Qian Chen, Jing-Min Wang, Hong Pan
Supernumerary marker chromosome 15 is a rare chromosome abnormality. This paper reports the clinical diagnosis and treatment, as well as genetic defects, of a child with supernumerary marker chromosome 15. The patient was a 9.5-year-old girl who had mental and motor retardation since infancy, breast development at the age of 7 years, and seizures at the age of 8.5 years. Seizures occurred with various features and could not be controlled by a variety of antiepileptic drugs. No abnormalities were found by brain magnetic resonance imaging...
August 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Ankita Maheshwari, Vaman Khadilkar, Priyanka Gangodkar, Anuradha Khadilkar
OBJECTIVES: To retrospectively assess growth of children with congenital adrenal hyperplasia (CAH) with special reference to puberty and to assess longitudinal growth and final height of subset of children with CAH. METHODS: A retrospective analysis of 30 children (14 boys) with classic CAH (11 salt wasters, 19 simple virilisers) followed up for a mean duration of 9.9 ± 2.4 y (Study period December 2002 through December 2016) was performed. Height Z scores, target height Z scores, height velocities and laboratory parameters were analysed...
February 2019: Indian Journal of Pediatrics
Laura Palma, Rossella Gaudino, Paolo Cavarzere, Franco Antoniazzi
BACKGROUND: Gonadotropin-releasing hormone agonists (GnRH-a) are common treatment options for central precocious puberty (CPP) in childhood. GnRH-a treatment is useful and has a good safety profile, with minimal adverse effects and no severe long-term consequences. The common side effects in children are menopause-like symptoms and local adverse events at the injection site. CASE PRESENTATION: We present the case of a girl with CPP who developed arterial hypertension from treatment with GnRH-a (triptorelin)...
August 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Won Young Lee, Geehae Jung, Hye Ryun Kim, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee
Osteocalcin is the non-collagenous protein produced by osteoblasts in bone. When it is released into systemic circulation in its uncarboxylated form, it regulates fat and glucose metabolism. Recent studies have shown that osteocalcin is also involved in male fertility. Because the onset of puberty is determined by ethnic, genetic, environmental, and metabolic factors, we focused on determining the role of osteocalcin in the onset of puberty. Central precocious puberty (CPP) is defined as the activation of the hypothalamic-pituitary-gonadal axis before the age of 8 in girls and 9 in boys...
August 2018: Tohoku Journal of Experimental Medicine
Rebecca Schneider Aguirre, Erica A Eugster
Central precocious puberty (CPP) results from early activation of the hypothalamic - pituitary -gonadal (HPG) axis and follows the same sequence as normal puberty. While many factors involved in pubertal initiation remain poorly understood, the kisspeptin system is known to play a key role. Currently, mutations in the kisspeptin system, MKRN3, and DLK1 have been identified in sporadic and familial cases of CPP. The diagnosis is based on physical exam findings indicating advancing puberty and on laboratory tests confirming central HPG axis activation...
August 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Mateus Cavarzan Lopes, Carolina Oliveira Ramos, Ana Claudia Latronico, Berenice B Mendonça, Vinicius N Brito
OBJECTIVES: Unfavorable predicted adult height and psychosocial inadequacy represent parameters used to guide therapeutic intervention in girls with central precocious puberty. Gonadotropin-releasing hormone analog is the first-line treatment. The aim of this study was to compare two methods used to predict adult height and assess a validated tool for predicting the age at menarche in girls with central precocious puberty. METHODS: The predicted adult height of 48 girls with central precocious puberty was calculated at diagnosis using the Bayley-Pinneau method based on average and advanced bone age tables and compared with the predicted adult height calculated using a mathematical model...
July 26, 2018: Clinics
Paul B Kaplowitz, Philippe F Backeljauw, David B Allen
The use of gonadotropin-releasing hormone analogs (GnRHa) for the treatment of central precocious puberty (CPP), especially in girls, has increased rapidly in recent years. In the context of a secular trend towards earlier puberty onset, many girls now treated for CPP are healthy children experiencing puberty onset within the early end of the normal range. Justifications for GnRHa treatment include the preservation of adult height (AH) potential and the alleviation of presumed distress of early maturation and menarche...
2018: Hormone Research in Pædiatrics
Jinshui He, Yueya Kang, Lixia Zheng
BACKGROUND: This paper aims to investigate the correlation between serum levels of luteinizing hormone (LH), insulin-like growth factor-1 (IGF-1) and leptin and the incidence of idiopathic central precocious puberty (ICPP) in girls, and to explore the clinical values in the diagnosis of ICPP. METHODS: A total of 48 girls with ICPP were selected in our hospital from March 2014 to March 2015 to serve as ICPP group. At the same time, 48 girls with the same age distribution were selected as control group...
July 24, 2018: Minerva Pediatrica
Audrey Vincent, Jean-Claude Souberbielle, Raja Brauner
BACKGROUND: The bone markers bone alkaline phosphatase (BAP) and C-terminal telopeptide of type I collagen crosslinks (CTX) are correlated with growth rate during normal puberty. The objective of this study was to evaluate the relationship between the serum concentrations of BAP and CTX and growth evolution in girls with idiopathic central precocious puberty (CPP) to help predict adult height. METHODS: A retrospective single-center study was conducted in 74 girls with CPP for whom a serum sample at initial evaluation was available to retrospectively measure BAP and CTX concentrations; 66...
July 9, 2018: BMC Pediatrics
Rosita A Condorelli, Rossella Cannarella, Aldo E Calogero, Sandro La Vignera
INTRODUCTION: The assessment of testicular function is not currently performed in childhood. The aim of this review was to address the usefulness of serum Anti-Müllerian Hormone (AMH), inhibin B, and testicular volume (TV) evaluation in children. REVIEW: Serum AMH and inhibin B levels reflect Sertoli cells (SCs) health and number, SCs maturation degree and their exposure to FSH and to intra-tubular testosterone (T). These hormones might be helpful in discriminating between congenital central hypogonadism (cHH) and constitutional delay in growth and puberty (CDGP) and in case of clinical suspicious of precocious puberty...
November 2018: Endocrine
Dong Wook Kim, Junghwan Suh, Ah Reum Kwon, Hyun Wook Chae, Choon Sik Yoon, Ho-Seong Kim, Duk Hee Kim
PURPOSE: This study aimed to investigate associations of central obesity with sexual maturation and metabolic parameters in Korean girls with precocious puberty. METHODS: This retrospective study evaluated data from 72 girls under 8 years of age with a chief complaint of early breast development. The patients were categorized as central precocious puberty (CPP) subjects or non-CPP subjects based on their gonadotropin-releasing hormone stimulation test results. Visceral fat thickness (VFT) was measured using ultrasonography and defined as the distance from the linea alba to the aorta...
June 2018: Annals of Pediatric Endocrinology & Metabolism
Jisun Lee, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
PURPOSE: In the present study, the etiological trends in male central precocious puberty (CPP) were examined, and annual distribution was evaluated. METHODS: Seventy-one male CPP subjects who started puberty before 9 years of age were included in this study. All individuals were diagnosed as having CPP at Samsung Medical Center between 2001 and 2016. Chronological age at puberty onset, diagnosis of CPP, bone age, weight (kg), height (cm), puberty stage, brain magnetic resonance imaging findings, testosterone level, basal gonadotropin level, and gonadotropin level after gonadotropin releasing hormone stimulation were analyzed...
June 2018: Annals of Pediatric Endocrinology & Metabolism
Silvano Bertelloni, Cristina Mucaria, Giampiero I Baroncelli, Diego Peroni
Triptorelin depot is largely used to treat central precocious puberty (CPP) in children. Areas covered: This review updates triptorelin depot treatment of CPP, focusing on trials that compared 3.75 mg/28 day treated and untreated children till the adult height (AH). Efficacy of the new 11.25 mg/90 days or 22.5 mg/6 month formulations in suppressing pituitary-gonadal axis in short-term trials is also addressed. Short- and long-term safety was summarized. Expert commentary: Long experience on triptorelin depot use in children with CPP is available...
July 2018: Expert Review of Clinical Pharmacology
Lisa Swartz Topor, Kimberly Bowerman, Jason T Machan, Courtney L Gilbert, Tairmae Kangarloo, Natalie D Shaw
OBJECTIVE: Recent studies in the US and abroad suggest that boys are undergoing puberty at a younger age. It is unknown if this secular trend extends to boys with central precocious puberty (CPP), who sit at the extreme end of the pubertal spectrum, and if neuroimaging should remain a standard diagnostic tool. STUDY DESIGN: Retrospective chart review of all boys with CPP seen by Endocrinology at a US pediatric hospital from 2001-2010. RESULTS: Fifty boys had pubertal onset at an average age of 7...
2018: PloS One
Sezer Acar, Nur Arslan, Ahu Paketçi, Tuncay Derya Okur, Korcan Demir, Ece Böber, Ayhan Abacı
Tay-Sachs disease is an autosomal recessive type of lysosomal storage disorder. The disease is very rare in Turkey, with an incidence of 0.54/100,000. The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system. To date, only one case indicating the association between Tay-Sachs disease and central precocious puberty has been reported. Although the mechanism of this association is not clear, it is thought to be due to ganglioside accumulation in the central nervous system or the inhibition of the hypothalamic inhibiting pathway...
September 2018: Hormones: International Journal of Endocrinology and Metabolism
Sena Cantas-Orsdemir, Jane L Garb, Holley F Allen
Background Some pediatric endocrinologists recommend that girls with central precocious puberty (CPP) have cranial magnetic resonance imaging (MRI) performed only if they are younger than 6 years of age. However, no practice guidelines exist. The objective of this review was to assess the frequency of intracranial lesions in girls with CPP. Content We searched six electronic databases (PubMed, Cochrane, Web of Science, SCOPUS, ProQuest, and Dissertation & Theses) from 1990 through December 2015. We included studies on girls with CPP and MRI data...
July 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Yılmaz Kor
Familial testotoxicosis is a disease with autosomal dominant inheritance that only affects men and which causes gonadotropin-independent precocious puberty. Although basal levels of luteinizing hormone and follicle-stimulating hormone are low, similar to what is expected in the pre-pubertal period, testosterone levels are high. Bicalutamide as an anti-androgen medication and anastrozole as an aromatase inhibitor have been proposed as agents that can be safely used in children. In the present study, we present the case of coexistent familial testotoxicosis and central precocious puberty induced by long-term androgen exposure in a patient aged 7...
June 2018: Hormones: International Journal of Endocrinology and Metabolism
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"