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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/30227399/rare-cause-of-infantile-hypercalcemia-a-novel-mutation-in-the-slc34a1-gene
#1
Erdal Kurnaz, Şenay Savaş Erdeve, Semra Çetinkaya, Zehra Aycan
BACKGROUND: Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis. METHODS: A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement...
September 18, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30212819/prenatal-exposure-to-persistent-organic-pollutants-and-anogenital-distance-in-children-at-18-months
#2
Miguel García-Villarino, Isolina Riaño-Galán, Ana Cristina Rodriguez-Dehli, Esther Vizcaíno, Joan O Grimalt, Adonina Tardón, Ana Fernández-Somoano
BACKGROUND: Anogenital distance (AGD) is a measure of in utero exposure to hormonally active agents. The aim of the present study was to evaluate the association between prenatal exposure to persistent organic pollutants (POPs) and AGD. METHODS: POP levels were measured in pregnant women, and the AGD was recorded in 43 offspring at 18 months. We used linear regression models to analyze the association between maternal POP exposure and offspring AGD. We defined the anogenital index (AGI) as AGD divided by weight at 18 months (AGI = AGD / weight at 18 months [mm/kg]) and included this variable in the regression models...
September 13, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30199857/growth-hormone-treatment-for-short-stature-in-the-usa-germany-and-france-15-years-of-surveillance-in-the-genetics-and-neuroendocrinology-of-short-stature-international-study-genesis
#3
Roland Pfäffle, Christof Land, Eckhard Schönau, Paul-Martin Holterhus, Judith L Ross, Carolina Piras de Oliveira, Christopher J Child, Imane Benabbad, Nan Jia, Heike Jung, Werner F Blum
BACKGROUND/AIMS: To describe characteristics, auxological outcomes and safety in paediatric patients with growth disorders treated with growth hormone (GH), for cohorts from the USA, Germany and France enrolled in GeNeSIS, a post-authorisation surveillance programme. METHODS: Diagnosis and biochemical measurement data were based on reporting from, and GH treatment was initiated at the discretion of, treating physicians. Auxological outcomes during the first 4 years of GH treatment and at near-adult height (NAH) were analysed...
September 10, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30179867/next-generation-sequencing-identifies-different-genetic-defects-in-2-patients-with-primary-adrenal-insufficiency-and-gonadotropin-independent-precocious-puberty
#4
Chiara Guzzetti, Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Emanuele Bellacchio, Anastasia Ibba, Letizia Casula, Antonio Novelli, Sandro Loche, Marco Cappa
BACKGROUND: The development of gonadotropin-independent (peripheral) precocious puberty in male children with primary adrenal insufficiency (PAI) is consistent with a defect in the genes encoding for the enzymes involved in steroid hormone biosynthesis. METHODS: Two young boys presented with peripheral precocious puberty followed by PAI. In both patients, the analysis of CYP21A2 gene encoding 21-hydroxylase was normal. As a second step, a targeted next-generation sequencing (NGS) was performed in both patients using a customized panel of congenital endocrine disor ders...
September 4, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30173221/accelerated-pubertal-tempo-in-a-46-xy-aromatase-deficient-patient
#5
Mariana Costanzo, José Garcia-Feyling, Nora Saraco, Roxana Marino, Natalia Pérez Garrido, Maria Sol Touzon, Gisela Viterbo, Juan Manuel Lazzati, Hellem Carolina Patiño, Celeste Mattone, Mercedes Maceiras, Alicia Belgorosky, Gabriela Guercio
BACKGROUND: Aromatase deficiency is a rare autosomal recessive disorder. 46,XY-affected patients often remain undiagnosed until late puberty. Only 2 pediatric cases have been reported. Data on pubertal development in affected males are scarce. AIM: To report the clinical phenotype and hormonal studies of an aromatase-deficient boy during the prepubertal and early pubertal period. RESULTS: The patient was the older brother of a 46,XX girl with aromatase deficiency...
August 31, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30157487/effect-of-thyroid-hormones-on-neurons-and-neurodevelopment
#6
Giovanni Prezioso, Cosimo Giannini, Francesco Chiarelli
This review focuses on the current knowledge of the effects of thyroid hormones on central nervous system differentiation and development in animals and the human fetal brain. The outcomes of children with congenital hypothyroidism and of newborns with hypothyroid pregnant mothers are emphasized, focusing on how therapies could affect and especially improve the outcomes.
August 29, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30149380/effects-of-recombinant-human-growth-hormone-in-children-with-crohn-s-disease-on-the-muscle-bone-unit-a-preliminary-study
#7
Mabrouka A Altowati, Sheila Shepherd, Paraic McGrogan, Richard K Russell, S Faisal Ahmed, Sze Choong Wong
BACKGROUND/AIMS: There is limited information on the impact of recombinant human growth hormone (rhGH) on the muscle-bone unit in children with Crohn's disease (CD). In this pilot study, we report on the effects of rhGH on bone formation, dual-energy X-ray absorptiometry (DXA) total body (TB) bone mineral density adjusted for height and lumbar spine (LS) bone mineral apparent density (BMAD), and body composition. METHODS: Prospective study of 8 children with CD (6 male), aged 14...
August 27, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30149373/prevalence-of-testicular-adrenal-rest-tumor-and-factors-associated-with-its-development-in-congenital-adrenal-hyperplasia
#8
Carolina Taddeo Mendes-Dos-Santos, Daniel Lahan Martins, Gil Guerra-Júnior, Maria Tereza Matias Baptista, Maricilda Palandi de-Mello, Laurione Candido de Oliveira, André Moreno Morcillo, Sofia Helena Valente Lemos-Marini
BACKGROUND: Testicular adrenal rest tumors (TART) can cause infertility in congenital adrenal hyperplasia (CAH) males. AIMS: To determine TART prevalence in patients with CAH due to 21-hydroxylase deficiency (21-OHD) and evaluate possible factors associated with its development. METHODS: This is a descriptive and analytical cross-sectional study evaluating males with the classical form of 21-OHD through testicular ultrasonography and serum inhibin B dosages...
August 27, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30130795/racial-ethnic-disparities-in-us-pediatric-growth-hormone-treatment
#9
Adda Grimberg, Anders Lindberg, Michael Wajnrajch, Andrew J Cucchiara, Cecilia Camacho-Hübner
BACKGROUND/AIMS: To compare racial/ethnic proportions of subjects receiving growth hormone (GH) treatment to the expected proportions, and secondarily, to assess racial/ethnic differences in subject characteristics at GH treatment initiation. METHODS: Race/ethnicity-based expected frequencies of height <-2.25 SD were determined by applying relative risks for short stature, calculated from a regional population of 189,280 pediatric primary care patients, to US census data, and compared to racial/ethnic proportions of US subjects enrolled in the Pfizer International Growth Study (KIGS) using the χ2 test...
August 21, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30114684/the-use-of-a-long-acting-somatostatin-analogue-lanreotide-in-three-children-with-focal-forms-of-congenital-hyperinsulinaemic-hypoglycaemia
#10
Antonia Dastamani, Maria Güemes, Catherine Pitfield, Kate Morgan, Mansoor Rajab, Christof Rottenburger, Jamshed Bomanji, Paolo De Coppi, Mehul Dattani, Pratik Shah
BACKGROUND: A long-acting somatostatin analogue (lanreotide) is used in the management of a diazoxide-unresponsive diffuse form of congenital hyperinsulinism (CHI). However, no reports of its use in patients with the focal form of CHI exist. Case 1: A 1-month-old boy diagnosed with diazoxide-unresponsive CHI due to a paternal heterozygous ABCC8 gene mutation showed partial response to octreotide. 18F-DOPA-PET/CT scan revealed a focal lesion in the pancreatic head. Surgical removal of the lesion was unsuccessful...
August 16, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30110707/prepubertal-children-exposed-to-maternal-gestational-diabetes-have-latent-low-grade-inflammation
#11
Leena Antikainen, Jarmo Jääskeläinen, Henrikki Nordman, Raimo Voutilainen, Hanna Huopio
BACKGROUND: Maternal gestational diabetes mellitus (GDM) and overweight are associated with an increased risk of obesity and the metabolic syndrome in the adult offspring. We studied the influence of maternal GDM on prepubertal children's height, weight, body mass index (BMI), lipid and glucose metabolism, and low-grade inflammation. METHODS: A cohort of 135 prepubertal Caucasian children (age range 4.4-9.7 years) was studied in a controlled cross-sectional study...
August 15, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30110704/fetal-goitrous-hypothyroidism-and-polyhydramnios-in-a-patient-with-compound-heterozygous-duoxa2-mutations
#12
Kanako Tanase-Nakao, Ichiro Miyata, Ayako Terauchi, Maki Saito, Seiji Wada, Tomonobu Hasegawa, Satoshi Narumi
BACKGROUND: Fetal goiter is only rarely observed in pregnant women without autoimmune thyroid disorders, and there is no epidemiological data on its pathophysiology. Dual oxidase maturation factor 2 (DUOXA2), together with dual oxidase 2, serves pivotal roles in thyroid hormone biosynthesis. To date, all reported patients with DUOXA2 mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism. CASE REPORT: The mother of a male fetus presented at 33 + 4 gestational weeks (GW) with a fetal goiter and polyhydramnios...
August 15, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30092575/post-prandial-hyperinsulinaemic-hypoglycaemia-after-oesophageal-surgery-in-children
#13
Antonia Dastamani, Neha Malhorta, Maria Güemes, Kate Morgan, Clare M Rees, Mehul Dattani, Pratik Shah
INTRODUCTION: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognized complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report 2 children diagnosed with PPHH after oesophageal surgery and the challenges of their management. Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth was surgically repaired requiring 6 oesophageal dilatations in the first year of life. At 11 months of age, he manifested hypoglycaemic seizures and investigations confirmed PPHH...
August 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30092570/rapid-growth-and-early-metastasis-of-papillary-thyroid-carcinoma-in-an-adolescent-girl-with-graves-disease
#14
Kazuhiro Shimura, Hironori Shibata, Yusuke Mizuno, Naoko Amano, Ken Hoshino, Tatsuo Kuroda, Kaori Kameyama, Michiko Matsuse, Norisato Mitsutake, Kiminori Sugino, Jaeduk Yoshimura Noh, Tomonobu Hasegawa, Tomohiro Ishii
BACKGROUND: The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION: We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' disease was diagnosed by the presence of serum TSH receptor antibodies at 8 years of age when thyroid ultrasonography detected no nodules. After 4 years of effective treatment with thiamazole, multifocal nodules - up to 47 mm in diameter - were detected on thyroid ultrasonography...
August 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30086540/continuous-intragastric-dextrose-a-therapeutic-option-for-refractory-hypoglycemia-in-congenital-hyperinsulinism
#15
Mary Ellen Vajravelu, Morgan Congdon, Lauren Mitteer, Jamie Koh, Stephanie Givler, Justine Shults, Diva D De León
Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center's HI team uses dextrose solution given continuously via gastric tube (intrasgastric dextrose, IGD) for infants not fully responsive to conventional medical therapy or pancreatectomy. Here, we describe our practice as well as growth, feeding, and adverse events in infants with HI exposed to IGD. METHODS: This was a retrospective cohort of infants with HI treated with IGD from 2009-2017...
August 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30048982/insights-from-the-who-and-national-lists-of-essential-medicines-focus-on-pediatric-diabetes-care-in-africa
#16
Amanda Rowlands, Emmanuel Ameyaw, Florent Rutagarama, Joel Dipesalema, Edna Siima Majaliwa, Joyce Mbogo, Graham D Ogle, Jean-Pierre Chanoine
BACKGROUND: Access to essential medicines in pediatric endocrinology and diabetes is limited in resource-limited countries. The World Health Organization (WHO) maintains two non-binding lists of essential medicines (EMLs) which are often used as a template for developing national EMLs. METHODS: We compared a previously published master list of medicines for pediatric endocrinology and diabetes with the WHO EMLs and national EMLs for countries within the WHO African region...
July 26, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30021204/ultrasonography-and-the-american-thyroid-association-ultrasound-based-risk-stratification-tool-utility-in-pediatric-and-adolescent-thyroid-nodules
#17
Ana Creo, Fares Alahdab, Alaa Al Nofal, Kristen Thomas, Amy Kolbe, Siobhan T Pittock
BACKGROUND: Pediatric thyroid nodules are more likely to be malignant compared to those in adults and may have different concerning ultrasound (US) features. Recent adult guidelines stratify malignancy risk by US features. Our aim is to (1) describe and confirm US features that predict pediatric malignancy, and (2) apply the Adult American Thyroid Association (ATA) Risk Stratification Guidelines to a large pediatric cohort. METHODS: We identified 112 children with 145 thyroid nodules from 1996 to 2015...
July 18, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/30021202/single-centre-experience-of-testosterone-therapy-for-boys-with-hypogonadism
#18
Angela K Lucas-Herald, Eliot Mason, Paula Beaumont, Avril Mason, M Guftar Shaikh, Sze C Wong, S Faisal Ahmed
BACKGROUND: Hypogonadism in boys is one of the commonest conditions encountered in paediatric endocrinology. AIMS: To study variations in management in a contemporary group of boys at a single specialist centre. METHODS: Retrospective review of case records of all boys treated with testosterone at a tertiary endocrine service from 2012 to 2017. RESULTS: Of the 358 boys reviewed for hypogonadism, 46 (13%) were initiated on testosterone therapy at a median age (range) of 14...
July 18, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29996141/changes-in-satiety-hormones-in-response-to-leptin-treatment-in-a-patient-with-leptin-deficiency
#19
Christian L Roth, Julia von Schnurbein, Clinton Elfers, Anja Moss, Martin Wabitsch
BACKGROUND: We tested whether leptin treatment affects secretion of satiety-related gut peptides and brain-derived neurotrophic factor (BDNF), which is a regulator of energy homeostasis downstream of hypothalamic leptin signaling. METHODS: We report the case of a morbidly obese 14.7-year-old girl with a novel previously reported homozygous leptin gene mutation, in whom hormone secretion was evaluated in 30-min intervals for 10 h (07.30-17.30) to assess BDNF, insulin, glucagon-like peptide-1 (GLP-1), ghrelin, and peptide YY (PYY) secretion before as well as 11 and 46 weeks after start of metreleptin treatment...
July 11, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29953972/resistant-paediatric-somatotropinomas-due-to-aip-mutations-role-of-pegvisomant
#20
Kriti Joshi, Adrian F Daly, Albert Beckers, Margaret Zacharin
BACKGROUND: Somatotropinomas are rare in childhood and frequently associated with genetic mutations. AIP mutations are found in 20-25% cases and cause aggressive somatotropinomas, often resistant to somatostatin analogues. AIMS: To assess responses to multimodal therapy including pegvisomant in 2 children with sporadic somatotropinomas due to AIP mutations. CASE DESCRIPTION: We report 2 children, a boy aged 13 and a girl aged 10, with rapid growth, visual impairment, and growth hormone hypersecretion...
June 28, 2018: Hormone Research in Pædiatrics
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