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Premature adrenarche

Nurullah Çelik, Hayrullah Alp, Emine Çamtosun, Esma Alp, Sibel Çelik, Erhan Berk
AIM: The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). METHODS: A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. RESULTS: Triglyceride, DHEA-SO4, and 17-hydroxyprogesterone levels were significantly higher in the PA group (p = 0.04, p = 0...
November 22, 2016: Hormone Research in Pædiatrics
Shin-Hye Kim, Ju-Yeon Moon, Hironobu Sasano, Man Ho Choi, Mi-Jung Park
CONTEXT: Pediatric obesity has been related to hyperandrogenism and premature adrenarche in previous studies. However, little is known regarding the association between body fat mass and steroidogenic enzyme activities in children. OBJECTIVE: To examine whether body fat mass is associated with serum steroid profiles in girls. DESIGN, PARTICIPANTS, AND SETTING: We enrolled 242 girls (125 prepubertal, 117 pubertal; aged 7-13 years). Early morning blood samples were drawn at a university hospital to measure serum steroid profiles using gas chromatography-mass spectrometry, and steroidogenic enzyme activities were assessed from the ratios of steroid metabolites...
September 20, 2016: Journal of Clinical Endocrinology and Metabolism
Emma L Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M O'Connell, Jennifer Salem, Jet Bliek, Ana P M Canton, Krystyna H Chrzanowska, Justin H Davies, Renuka P Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C S Hokken-Koelega, Alexander A Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E Moore, Philip G Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D Harbison, I Karen Temple, Deborah J G Mackay, Irène Netchine
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype...
September 2, 2016: Nature Reviews. Endocrinology
S D Joustra, C A Heinen, N Schoenmakers, M Bonomi, B E P B Ballieux, M-O Turgeon, D J Bernard, E Fliers, A S P van Trotsenburg, M Losekoot, L Persani, J M Wit, N R Biermasz, A M Pereira, W Oostdijk
Clinical and biochemical characteristics of 69 male patients and 56 female IGSF1 mutation carriers were collected, providing recommendations for mutational analysis, endocrine work-up, and long-term care.
April 2016: Journal of Clinical Endocrinology and Metabolism
Bryan A Ghanny, Sonali Malhotra, Shilpa Kumta, Irina Kazachkova, Peter Homel, Elka Jacobson-Dickman, Roja Motaghedi
BACKGROUND: Current clinical practice is to evaluate children presenting with premature adrenarche (PA) for non-classical congenital adrenal hyperplasia (NC-CAH). Our main objective was to assess the prevalence of NC-CAH among children presented with PA. Additional objectives were to ascertain whether subpopulations were prone to NC-CAH, and therefore justified to be tested, and if obesity is a factor that can exclude the need for CAH testing. METHODS: A retrospective chart review of all children ≤11 years, who presented to our clinic with PA between January 2012 and May 2015 (n=103) was conducted...
March 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Kristen M Williams, Sharon E Oberfield, Chengchen Zhang, Donald J McMahon, Aviva B Sopher
BACKGROUND: Studies that evaluate both body composition and metabolic syndrome (MeS) risk in prepubertal children with premature adrenarche (PA) are limited. METHODS: Fifty-eight prepubertal children (aged 5-9 years, 33 female and 25 male), 30 with PA and 28 controls, were evaluated for the presence of MeS as defined by age-modified National Cholesterol Education Program Adult Treatment Panel III criteria. A subset had dual-energy X-ray absorptiometry and bone markers (n = 23/58) to evaluate the effect of hyperandrogenism on metabolic abnormalities and body composition...
2015: Hormone Research in Pædiatrics
Sara K Bartz, Lefkothea P Karaviti, Mary L Brandt, Monica E Lopez, Prakash Masand, Sridevi Devaraj, John Hicks, Lauren Anderson, Maya Lodish, Meg Keil, Constantine A Stratakis
CONTEXT: Cushing Syndrome is difficult to diagnose, and the comorbidities and persistent late effects of hypercortisolemia after treatment of the primary disease are challenging for the patient and the endocrinologist. OBJECTIVE: To report the case of a girl with obesity and hypertension, ultimately diagnosed with Cushing syndrome due to primary pigmented nodular adrenocortical disease. In this case, the complications of hypercortisolism persisted short term despite surgical intervention...
2015: International Journal of Pediatric Endocrinology
Andromachi Vryonidou, Stavroula A Paschou, Giovanna Muscogiuri, Francesco Orio, Dimitrios G Goulis
The normal function of the female reproductive system is closely linked to energy homeostasis with the ultimate scope of fertility and human race perpetuation through the centuries. During a woman's lifetime there are normal events such as puberty, pregnancy and menopause which are related to alterations in energy homeostasis and gonadal steroids levels followed by increase of body fat and insulin resistance, important components of metabolic syndrome (MetS). Pathological conditions such as premature adrenarche, polycystic ovary syndrome and gestational diabetes also present with shifts in gonadal steroid levels and reduced insulin sensitivity...
November 2015: European Journal of Endocrinology
Anderson Sanches de Melo, Sabrine Vilan Dias, Ricardo de Carvalho Cavalli, Viviane Cunha Cardoso, Heloisa Bettiol, Marco Antonio Barbieri, Rui Alberto Ferriani, Carolina Sales Vieira
Polycystic ovary syndrome (PCOS) is a multifactorial disorder that arises from interactions between genetic, environmental and intra-uterine factors. Small-for-gestational-age (SGA) babies and the daughters of mothers with PCOS represent possible postnatal clinical targets for developmental programming by steroid excess. The presence of excess glucocorticoids and/or androgens during foetal organogenesis and growth might promote changes in gene expression, and these changes might be related to an increase in the risk of PCOS-like reproductive and metabolic disorders in postnatal life, such as rapid growth and weight gain during the first 2 years of life (only in SGA babies), hyperinsulinaemia, adipocyte dysfunction and childhood visceral obesity, premature pubarche and adrenarche (only in SGA babies) and PCOS...
July 2015: Reproduction: the Official Journal of the Society for the Study of Fertility
Ayşe Nurcan Cebeci, Ayşegül Taş
OBJECTIVE: Idiopathic premature adrenarche (PA) refers to presence of androgenic signs before the age of eight years in girls in the absence of thelarche. In children with PA, increased adrenal androgens lead to changes in body composition and transient growth acceleration. Although the association between PA and some components of the metabolic syndrome is well known, body composition has not been extensively studied in these patients. METHODS: We examined 47 girls with PA with a median age of 7...
March 2015: Journal of Clinical Research in Pediatric Endocrinology
Melissa J Schoelwer, Kelly L Donahue, Kristina Bryk, Paula Didrick, Sheri A Berenbaum, Erica A Eugster
BACKGROUND: Concerns about psychological distress are often used to justify treatment of girls with precocious puberty, but there is little evidence to support these concerns. The extent to which psychological problems are associated with central precocious puberty (CPP) compared with other forms of early puberty in girls has likewise not been established. METHODS: Girls presenting with untreated CPP, premature adrenarche (PA) or early normal puberty (ENP) were recruited from our pediatric endocrine clinic along with their mothers...
2015: International Journal of Pediatric Endocrinology
Pauliina Utriainen, Saila Laakso, Jani Liimatta, Jarmo Jääskeläinen, Raimo Voutilainen
Adrenarche refers to a maturational increase in the secretion of adrenal androgen precursors, mainly dehydroepiandrosterone (DHEA) and its sulfate (DHEAS). In premature adrenarche (PA), clinical signs of androgen action appear before the age of 8/9 years in girls/boys, concurrently with the circulating DHEA(S) concentrations above the usually low prepubertal level. The most pronounced sign of PA is the appearance of pubic/axillary hair, but also other signs of androgen effect (adult type body odor, acne/comedones, greasy hair, accelerated statural growth) are important to recognize...
2015: Hormone Research in Pædiatrics
Vassos Neocleous, Christos Shammas, Alexia Ap Phedonos, Leonidas A Phylactou, Nicos Skordis
OBJECTIVES: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess. PATIENTS AND METHODS: The study included 64 girls diagnosed with premature adrenarche (PA) in childhood and 141 females with clinical hyperandrogenemia manifested in adolescence or adulthood. Direct DNA sequencing and multiplex ligation-dependent probe amplification analysis were used to identify mutations in the CYP21A2 gene...
November 2014: Indian Journal of Endocrinology and Metabolism
Vivian L Chin, Ziyong Cai, Leslie Lam, Bina Shah, Ping Zhou
BACKGROUND: Changes in pharmacological agents and advancements in laboratory assays have changed the gonadotropin-releasing hormone analog stimulation test. OBJECTIVE: To determine the best predictive model for detecting puberty in girls. SUBJECTS: Thirty-five girls, aged 2 years 7 months to 9 years 3 months, with central precocious puberty (CPP) (n=20) or premature thelarche/premature adrenarche (n=15). METHODS: Diagnoses were based on clinical information, baseline hormones, bone age, and pelvic sonogram...
March 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
N Skordis, C Shammas, A A P Phedonos, A Kyriakou, M Toumba, V Neocleous, L A Phylactou
OBJECTIVES: To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA). METHODS: The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene. RESULTS: Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on stimulated 17-hydroxyprogesterone (17-OHP) levels and the presence of two mutations in CYP21A2, 19 were heterozygotes...
May 2015: Journal of Endocrinological Investigation
Farzaneh Rohani, Shadab Salehpur, Fatemeh Saffari
BACKGROUND: Precocious puberty, as early physical development and low final height might lead to psychosocial problems. OBJECTIVE: To evaluate etiology and clinical feature of precocious puberty in a cohort of Iranian children. MATERIALS AND METHODS: In this case-series study, 44 girls and 8 boys with precocious puberty referred to Endocrine Reserch Centre (Firouzgar), Institute of Endocrinology and Metabolism (Hemmat Campus), were examined in a 10 years period of time...
January 2012: Iranian Journal of Reproductive Medicine
Walter L Miller, Meng Kian Tee
A single enzyme, microsomal P450c17, catalyzes the 17α-hydroxylase activity needed to make cortisol and the subsequent 17,20 lyase activity needed to produce the 19-carbon precursors of sex steroids. The biochemical decision concerning whether P450c17 stops after 17α-hydroxylation or proceeds to 17,20 lyase activity is largely dependent on three post-translational factors. First, 17,20 lyase activity is especially sensitive to the molar abundance of the electron-transfer protein P450 oxidoreductase (POR)...
June 15, 2015: Molecular and Cellular Endocrinology
Aino Mäntyselkä, Jarmo Jääskeläinen, Virpi Lindi, Anna Viitasalo, Tuomo Tompuri, Raimo Voutilainen, Timo A Lakka
CONTEXT: Adrenarche refers to the onset of increased production of adrenal androgens in childhood leading variably to clinical signs of androgen action. The prevalence and presentation of adrenarche in prepubertal girls and boys is not well known. OBJECTIVE: Our objective was to examine the prevalence and clinical presentation of adrenarche in a population sample of prepubertal children aged less than 9 years. DESIGN AND PARTICIPANTS: This cross-sectional study included prepubertal children (209 girls and 228 boys; median age 7...
October 2014: Journal of Clinical Endocrinology and Metabolism
Raimo Voutilainen, Jarmo Jääskeläinen
Adrenarche means the morphological and functional change of the adrenal cortex leading to increasing production of adrenal androgen precursors (AAPs) in mid childhood, typically at around 5-8 years of age in humans. The AAPs dehydroepiandrosterone (DHEA) and its sulfate conjugate (DHEAS) are the best serum markers of adrenal androgen (AA) secretion and adrenarche. Normal ACTH secretion and action are needed for adrenarche, but additional inherent and exogenous factors regulate AA secretion. Inter-individual variation in the timing of adrenarche and serum concentrations of DHEA(S) in adolescence and adulthood are remarkable...
January 2015: Journal of Steroid Biochemistry and Molecular Biology
Jani Liimatta, Saila Laakso, Pauliina Utriainen, Raimo Voutilainen, Jorma J Palvimo, Tiina Jääskeläinen, Jarmo Jääskeläinen
BACKGROUND: Clinical findings in children with premature adrenarche (PA) correlate only partly with circulating levels of adrenal androgens. It is not known whether the prepubertal low circulating concentrations of testosterone (T) and dihydrotestosterone, together with those of adrenal androgens, are capable of activating the androgen receptor. METHODS: This cross-sectional study was performed at a university hospital. Circulating androgen bioactivity was measured in 67 prepubertal children with clinical signs of PA and 94 control children using a novel androgen bioassay...
May 2014: Pediatric Research
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