3,945 results match your criteria Hormone Research[Journal]


Genetic and pathogenetic aspects of Noonan syndrome and related disorders.

Authors:
Martin Zenker

Horm Res 2009 Dec 22;72 Suppl 2:57-63. Epub 2009 Dec 22.

Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Germany.

Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of congenital heart defects, and a similar pattern of craniofacial anomalies. It is now known that all these disorders are caused by mutations in components of the RAS-MAPK signaling pathway. This pathway was previously known for its involvement in tumorigenesis. Read More

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http://dx.doi.org/10.1159/000243782DOI Listing
December 2009
3 Reads

Response to growth hormone in short children with Noonan syndrome: correlation to genotype.

Authors:
Gerhard Binder

Horm Res 2009 Dec 22;72 Suppl 2:52-6. Epub 2009 Dec 22.

University Children's Hospital Tubingen, Germany.

Short stature is a major characteristic of Noonan syndrome (NS), the biological basis of which is not yet clear. In around half of all individuals with NS, the cytoplasmic tyrosine phosphatase SHP2 encoded by PTPN11 is mutated and predicted to be overactive. While SHP2 enhances Ras-MAPK signaling, it downregulates Jak2/STAT5b signaling of the growth hormone (GH) receptor, according to in vitro data. Read More

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http://dx.doi.org/10.1159/000243781DOI Listing
December 2009
3 Reads

Growth hormone and the heart in Noonan syndrome.

Authors:
C Noordam

Horm Res 2009 Dec 22;72 Suppl 2:49-51. Epub 2009 Dec 22.

Department of Pediatrics, Radboud University Nijmegen Medical Centre, The Netherlands.

Background: The clinical hallmarks of Noonan syndrome (NS) are facial dysmorphism, short stature and cardiac defects. As one of the common cardiac defects in NS is hypertrophic cardiomyopathy, there have been concerns regarding cardiac safety since the start of human growth hormone (hGH) therapy for NS.

Methods: Review of currently available data on the prevalence of cardiac defects, the theoretical effects of hGH on the heart and the results of studies on the effects of hGH on the heart. Read More

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http://dx.doi.org/10.1159/000243780DOI Listing
December 2009
4 Reads

GH therapy in Noonan syndrome: Review of final height data.

Authors:
Jovanna Dahlgren

Horm Res 2009 Dec 22;72 Suppl 2:46-8. Epub 2009 Dec 22.

Goteborg Pediatric Growth Research Center, Institute for Clinical Sciences, Sahlgrenska Academy at Goteborg University, Sweden.

Background And Aims: Several studies, despite using small cohorts, have shown a short-term improvement in the height velocity of short children with Noonan syndrome (NS) when treated with recombinant growth hormone (GH). However, the question is whether or not this improvement is sustained until adult height is reached. This paper reviews the few studies reporting final height data of GH treatment in individuals with NS. Read More

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http://dx.doi.org/10.1159/000243779DOI Listing
December 2009
11 Reads

Growth hormone therapy in Noonan syndrome: growth response and characteristics.

Authors:
Otto Westphal

Horm Res 2009 Dec 22;72 Suppl 2:41-5. Epub 2009 Dec 22.

Queen Silvia Childrens Hospital, The Sahlgrenska Academy, University of Gothenburg, Goteborg, Sweden.

Growth hormone treatment in Noonan syndrome increases growth velocity significantly during the first 2 years of treatment and, to some extent, until puberty. This increase is more pronounced if treatment is started at an early age. Treatment before the age of 5 years is not recommended due to an increased risk of malignancies. Read More

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http://dx.doi.org/10.1159/000243778DOI Listing
December 2009
3 Reads

Noonan syndrome: growth to growth hormone - the experience of observational studies.

Authors:
Michael B Ranke

Horm Res 2009 Dec 22;72 Suppl 2:36-40. Epub 2009 Dec 22.

Department of Pediatrics, University of Tubingen, Germany.

Short stature is one of the key features of Noonan syndrome (NS). Attempts have therefore been made to improve height by means of recombinant human growth hormone (rhGH) treatment. Most of these endeavors were carried out either as case studies or observational studies. Read More

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http://dx.doi.org/10.1159/000243777DOI Listing
December 2009
3 Reads

Growth in Noonan syndrome.

Authors:
B J Otten C Noordam

Horm Res 2009 Dec 22;72 Suppl 2:31-5. Epub 2009 Dec 22.

Department of Pediatric Endocrinology, Radboud University Nijmegen Medical Center, The Netherlands.

Growth failure in Noonan syndrome is mainly postnatal of character and is dominated by slow maturation and late puberty. The postnatal early decline seems to be an intrinsic part of the syndrome. Reported adult heights are about -2 SD and are indicative of a secular trend. Read More

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http://dx.doi.org/10.1159/000243776DOI Listing
December 2009
10 Reads

Noonan syndrome: the hypothalamo-adrenal and hypothalamo-gonadal axes.

Horm Res 2009 Dec 22;72 Suppl 2:24-30. Epub 2009 Dec 22.

University of Edinburgh, UK.

The hypothalamo-pituitary-adrenal axis has not been studied systematically in Noonan syndrome (NS), despite potential concerns about other aspects of hypothalamo-pituitary function. While adrenarche may be delayed in children with constitutional growth of puberty and in isolated GH deficiency, this does not generally seem to be the case in hypergonadotrophic hypogonadism due to Turner syndrome (TS) and this is (anecdotally) the usual hormonal profile in NS children and adults. Precocious or 'exaggerated' adrenarche can be associated with intrauterine growth retardation and is a forerunner of syndrome X. Read More

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http://dx.doi.org/10.1159/000243775DOI Listing
December 2009
2 Reads

Neuropsychological and behavioral aspects of Noonan syndrome.

Horm Res 2009 Dec 22;72 Suppl 2:15-23. Epub 2009 Dec 22.

Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in the expression of genetic syndromes, like Noonan syndrome (NS). Cognitive and behavioral findings in NS show intelligence scores across a wide range, with a mildly lowered average level. Language and motor development are often delayed, but no longer dysfunctional in adulthood. Read More

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http://dx.doi.org/10.1159/000243774DOI Listing
December 2009
2 Reads

Malignant diseases in Noonan syndrome and related disorders.

Authors:
Henrik Hasle

Horm Res 2009 Dec 22;72 Suppl 2:8-14. Epub 2009 Dec 22.

Department of Pediatrics, Aarhus University Hospital Skejby, Denmark.

The overall risk of cancer in children with Noonan (NS), cardio-facial-cutaneous, Costello or LEOPARD syndrome is high, although no precise estimates are available. There are few data on cancer in adults with NS, but the reported numbers of malignancies in adults do not seem excessive. Juvenile myelomonocytic leukemia (JMML) is a rare aggressive leukemia in young children. Read More

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http://dx.doi.org/10.1159/000243773DOI Listing
December 2009
8 Reads

Noonan syndrome: introduction and basic clinical features.

Authors:
T Rohrer

Horm Res 2009 Dec 22;72 Suppl 2:3-7. Epub 2009 Dec 22.

Department of Pediatrics and Neonatology, Saarland University Hospital, Homburg/Saar, Germany.

Noonan syndrome (NS) is a fairly common (1 per 1,000-2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down's syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, learning disabilities and mild mental retardation. This article gives a brief introduction to NS and its basic clinical features using the established and generally accepted NS scoring system based on family history and facial, cardiac, growth, chest wall and other criteria. Read More

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http://dx.doi.org/10.1159/000243772DOI Listing
December 2009
5 Reads

Growing news on Noonan and related syndromes.

Horm Res 2009 Dec 22;72 Suppl 2:1-2. Epub 2009 Dec 22.

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http://dx.doi.org/10.1159/000243771DOI Listing
December 2009
3 Reads

Safety of growth hormone treatment in children with juvenile idiopathic arthritis.

Authors:
Dominique Simon

Horm Res 2009 Nov 27;72 Suppl 1:65-8. Epub 2009 Nov 27.

Department of Endocrinology and Diabetology, Hôpital Robert Debré, FR-75019 Paris, France.

Background: Available data on growth hormone (GH) therapy in glucocorticoid-treated children with juvenile idiopathic arthritis (JIA) suggest a satisfactory safety profile. There have been few reports of adverse effects on the course of the joint disease (e.g. Read More

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http://dx.doi.org/10.1159/000229767DOI Listing
November 2009
4 Reads

Effects of growth hormone treatment in juvenile idiopathic arthritis: bone and body composition.

Horm Res 2009 Nov 27;72 Suppl 1:60-4. Epub 2009 Nov 27.

Division of Pediatric Endocrinology, University Children's Hospital, Munich, Germany.

Background: Inflammation and glucocorticoid therapy are major factors influencing growth and bone maturation in patients with juvenile idiopathic arthritis (JIA). In addition to alterations in total bone mineral density and bone geometry, longitudinal data confirm that the main contributors to errant bone maturation in patients with JIA are reductions in muscle mass and force. Growth hormone (GH) therapy, which has shown efficacy in controlling disease, may also positively influence body composition. Read More

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http://dx.doi.org/10.1159/000229766DOI Listing
November 2009
10 Reads

Effects of growth hormone treatment on growth in children with juvenile idiopathic arthritis.

Authors:
D Simon S Bechtold

Horm Res 2009 Nov 27;72 Suppl 1:55-9. Epub 2009 Nov 27.

Department of Endocrinology and Diabetology, Hôpital Robert Debré, Paris FR-75019, France.

Background: Several therapeutic trials have been conducted over the past decade to evaluate the role of exogenous growth hormone (GH) as a means of correcting the growth deficiency seen in children with juvenile idiopathic arthritis (JIA). Early studies showed the benefit of GH treatment with respect to final height in patients with JIA. Of 13 patients receiving GH, 84% (11 patients) achieved a final height within their target range compared with only 22% (4 of 18 patients) of untreated patients. Read More

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http://dx.doi.org/10.1159/000229765DOI Listing
November 2009
2 Reads

Can growth hormone counteract the catabolic effects of steroids?

Authors:
Nelly Mauras

Horm Res 2009 Nov 27;72 Suppl 1:48-54. Epub 2009 Nov 27.

Division of Endocrinology, Nemours Children's Clinic, Jacksonville, FL 32207, USA.

Background: Chronic administration of glucocorticosteroids (GCs) can have significant catabolic effects in vivo in a host of metabolic systems, including amino acid metabolism, skeletal muscle, bone and linear growth. GCs inhibit protein synthesis and increase protein breakdown at the skeletal muscle and whole-body level and impair growth hormone (GH) secretion and action. Conversely, GH and insulin-like growth factor I (IGF-I) are potent protein-anabolic and growth-promoting agents in vitro and in vivo. Read More

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http://dx.doi.org/10.1159/000229764DOI Listing
November 2009
6 Reads

Promoting growth in chronic inflammatory disease: lessons from studies of the growth plate.

Horm Res 2009 Nov 27;72 Suppl 1:42-7. Epub 2009 Nov 27.

Bone and Endocrine Research Group, Division of Developmental Medicine, University of Glasgow, Royal Hospital for Sick Children, Glasgow, UK.

Background: Growth disorders are commonly observed in children with chronic inflammatory disease. It is likely that these disorders are mediated by a combination of factors, including the disease process and its treatment (with drugs such as glucocorticoids [GCs]). These factors affect the growth hormone-insulin-like growth factor I (IGF-I) axis, which is crucial for promoting linear growth at the level of the growth plate. Read More

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http://dx.doi.org/10.1159/000229763DOI Listing
November 2009
4 Reads

Mechanisms of muscle atrophy induced by glucocorticoids.

Horm Res 2009 Nov 27;72 Suppl 1:36-41. Epub 2009 Nov 27.

Unité de Diabétologie et Nutrition, Université Catholique de Louvain, Brussels, Belgium.

Background: Many pathological states characterized by muscle atrophy (e.g., sepsis, cachexia, starvation, metabolic acidosis and severe insulinopenia) are associated with an increase in circulating glucocorticoid (GC) levels, suggesting that GC could trigger the muscle atrophy observed in these conditions. Read More

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http://dx.doi.org/10.1159/000229762DOI Listing
November 2009
4 Reads

Mechanisms of impaired growth: effect of steroids on bone and cartilage.

Authors:
Robert C Olney

Horm Res 2009 Nov 27;72 Suppl 1:30-5. Epub 2009 Nov 27.

Division of Pediatric Endocrinology, Nemours Children's Clinic, Jacksonville, FL 32207, USA.

Background: Long-term treatment with high-dose glucocorticoids (GCs) has profound effects on bone metabolism and linear growth. Bone metabolism is a balance between bone resorption by osteoclasts and new bone formation by osteoblasts. Systemically, GC treatment reduces circulating levels of estrogen and modestly increases parathyroid hormone levels. Read More

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http://dx.doi.org/10.1159/000229761DOI Listing
November 2009
4 Reads

The impact of chronic inflammation on the growing skeleton: lessons from interleukin-6 transgenic mice.

Authors:
F De Benedetti

Horm Res 2009 Nov 27;72 Suppl 1:26-9. Epub 2009 Nov 27.

Laboratory of Rheumatology, Direzione Scientifica, IRCCS Ospedale Pediatrico Bambino Gesù, Rome IT-00165, Italy.

Background: Chronic inflammatory diseases in children are associated with impairment of linear growth and bone mineral accrual. In addition to poor nutrition, reduced mobility and glucocorticoid treatment, several observations in patients suggest that inflammation itself may have a direct detrimental effect on the growing skeletal system. Among the various inflammatory cytokines produced during the inflammatory response, data in animals suggest that interleukin-6 (IL-6) may mediate the effects of inflammation on the developing skeleton. Read More

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https://www.karger.com/Article/FullText/229760
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http://dx.doi.org/10.1159/000229760DOI Listing
November 2009
6 Reads

Adult outcomes of patients with juvenile idiopathic arthritis.

Authors:
Kirsten Minden

Horm Res 2009 Nov 27;72 Suppl 1:20-5. Epub 2009 Nov 27.

Children's University Hospital Charité Berlin and Epidemiology Unit, German Rheumatism Research Centre, Berlin DE-13353, Germany.

Background: Knowledge of the long-term outcomes of patients with juvenile idiopathic arthritis (JIA) has evolved during the past decade. Recent studies, using standardized classification criteria, new and reliable outcome measures and improved methods of statistical analyses, show that outcomes are still less than ideal. Approximately half of all young adults with JIA have ongoing active disease and over one third experience detectable degrees of disability and organ damage. Read More

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http://dx.doi.org/10.1159/000229759DOI Listing
November 2009
3 Reads

Natural history of growth and body composition in juvenile idiopathic arthritis.

Authors:
S Bechtold J Roth

Horm Res 2009 Nov 27;72 Suppl 1:13-9. Epub 2009 Nov 27.

Division of Pediatric Endocrinology, University Children's Hospital, Munich, Germany.

Background: In patients with juvenile idiopathic arthritis (JIA), growth impairment and altered body composition, including disturbed skeletal development, are well-known long-term complications. Data on longitudinal growth in patients with systemic and polyarticular JIA reveal growth impairment in the active phases of the disease. With reduction in disease activity and lower glucocorticoid (GC) doses, some patients experience 'catch-up' growth; however, many have only a slight improvement in height standard deviation during puberty or after cessation of GC treatment. Read More

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http://dx.doi.org/10.1159/000229758DOI Listing
November 2009
2 Reads

Juvenile idiopathic arthritis: classification, clinical presentation and current treatments.

Horm Res 2009 Nov 27;72 Suppl 1:4-12. Epub 2009 Nov 27.

Department of Pediatric Rheumatology, Olgahospital, Klinikum Stuttgart, Stuttgart, Germany.

Background: The term juvenile idiopathic arthritis (JIA) describes a clinically heterogeneous group of arthritides. The onset in all subgroups is before 16 years of age, but each group presents with different clinical signs and symptoms. The cause of the disease is unknown, but both genetic and environmental factors are believed to be involved. Read More

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http://dx.doi.org/10.1159/000229757DOI Listing
November 2009
1 Read

Growth and development abnormalities in children with juvenile idiopathic arthritis: treatment and prevention.

Authors:
Paul Czernichow

Horm Res 2009 Nov 27;72 Suppl 1:1-3. Epub 2009 Nov 27.

Department of Endocrinology and Growth Diseases, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000229756DOI Listing
November 2009
7 Reads

Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency.

Horm Res 2009 21;72(6):370-6. Epub 2009 Oct 21.

Endocrine Service, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

Background: Insulin resistance (IR), abnormal lipid profile, and other features of the metabolic syndrome have been described in CYP19 gene knockout mice and in aromatase-deficient adult men but not in prepubertal affected girls.

Aims: To study insulin sensitivity, as well as the effects of estrogen, metformin and GnRHa treatment on glucose homeostasis, in an aromatase-deficient girl.

Methods: Clinical, metabolic and hormonal follow-up data, from 8 to 12 years of age, is presented. Read More

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http://dx.doi.org/10.1159/000249165DOI Listing
February 2010
5 Reads

Seven years of safety and efficacy of the recombinant human growth hormone Omnitrope in the treatment of growth hormone deficient children: results of a phase III study.

Horm Res 2009 21;72(6):359-69. Epub 2009 Oct 21.

Department of Endocrinology, Children's Memorial Health Institute, Warsaw, Poland.

Aim: This phase III clinical study in growth hormone deficiency (GHD) children with growth retardation was designed to compare efficacy and safety of Omnitrope((R)) with Genotropin((R)) and assess the long-term safety and efficacy of Omnitrope((R)). The results of 7 years of treatment with Omnitrope((R)) are presented.

Patients And Methods: Eighty-nine treatment-naïve, prepubertal children with GHD were randomized (part 1) to Omnitrope((R)) lyophilisate (group A, n = 44) or Genotropin((R)) (group B, n = 45) for 9 months and received a subcutaneous dose of 0. Read More

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http://dx.doi.org/10.1159/000249164DOI Listing
February 2010
8 Reads

Isolation and characterization of omental adipose progenitor cells in children: a potential tool to unravel the pathogenesis of metabolic syndrome.

Horm Res 2009 21;72(6):348-58. Epub 2009 Oct 21.

Rina Balducci Center of Paediatric Endocrinology, Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy. arianna.maiorana @ hotmail.it

Background/aim: Visceral adipose tissue plays a pivotal role in the pathogenesis of metabolic syndrome. Several investigations refer to the physiology of subcutaneous and visceral adipose tissue of adult obese subjects, focusing on the characterization of adipose-derived stem cells and their differentiation capacity. To date, no study has been carried out on visceral adipose tissue of children, the main limitation being the amount of fat tissue available. Read More

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http://dx.doi.org/10.1159/000249163DOI Listing
February 2010
5 Reads

Perinatal goiter with increased iodine uptake and hypothyroidism due to excess maternal iodine ingestion.

Horm Res 2009 21;72(6):344-7. Epub 2009 Oct 21.

Background/aims: To review cases of fetal/newborn goiter due to excess maternal iodine ingestion.

Methods: We reviewed the medical records of all patients that presented with congenital goiter in 2003. We used the PubMed search engine to conduct a review of publications addressing congenital goiter and excessive iodine intake. Read More

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http://dx.doi.org/10.1159/000249162DOI Listing
February 2010
3 Reads

A favorable metabolic and antiatherogenic profile in carriers of CYP21A2 gene mutations supports the theory of a survival advantage in this population.

Horm Res 2009 21;72(6):337-43. Epub 2009 Oct 21.

First Department of Pediatrics, Athens University Medical School, Athens, Greece.

Context: The very high carrier frequency of 21-hydroxylase deficiency worldwide has been postulated as indicating a survival advantage. The 'mediators' of such an effect remain speculative.

Objective: To look for possible differences in the metabolic and atherogenic risk profile of carriers and noncarriers of CYP21A2 gene mutations at puberty in order to identify possible mediators of the presumed survival advantage for the carriers. Read More

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http://dx.doi.org/10.1159/000249161DOI Listing
February 2010
7 Reads

Evaluation of adrenomedullary function in patients with congenital adrenal hyperplasia.

Horm Res 2009 21;72(6):331-6. Epub 2009 Oct 21.

Department of Pediatrics, Faculty of Medicine, Trakya University, Edirne, Turkey.

Background/aims: Congenital adrenal hyperplasia (CAH) is characterized by adrenal insufficiency with or without salt wasting. It is also accompanied by adrenomedullary hypofunction. The aim of the present study was to investigate adrenomedullary function in patients with CAH due to 21-hydroxylase and 11beta-hydroxylase deficiencies and in age-matched normal subjects. Read More

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http://dx.doi.org/10.1159/000249160DOI Listing
February 2010
8 Reads

Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence.

Horm Res 2009 21;72(6):321-30. Epub 2009 Oct 21.

Endocrine Service, Hospital de Pediatria Garrahan, Buenos Aires, Argentina. abelgo @ elsitio.net

Introduction: cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal human health and disease. Placental aromatization of androgens protects the female fetus against the virilizing action of fetal androgens. After birth, the dual effect of aromatase deficiency, excessive androgens, and insufficient estrogens is responsible for a variable clinical picture. Read More

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http://dx.doi.org/10.1159/000249159DOI Listing
February 2010
4 Reads

Monozygotic twins are generally discordant for congenital hypothyroidism from thyroid dysgenesis.

Horm Res 2009 19;72(5):320. Epub 2009 Oct 19.

Hôpital Sainte-Justine, Université de Montréal, Montréal, Qué., Canada.

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http://dx.doi.org/10.1159/000245935DOI Listing
December 2009
2 Reads

Isolated Cushing's syndrome: an unusual presentation of McCune-Albright syndrome in the neonatal period.

Horm Res 2009 19;72(5):315-9. Epub 2009 Oct 19.

Unité d'Endocrinologie Pédiatrique, Hôpital Arnaud de Villeneuve, Villeneuve FR-34295, France.

Cushing's syndrome (CS) may develop at any time in childhood. In the neonatal period, the major cause is the overactivation of adrenal cells within the context of McCune-Albright syndrome (MAS). The hypercorticism usually appears with other clinical signs of MAS. Read More

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http://dx.doi.org/10.1159/000245934DOI Listing
December 2009
28 Reads

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.

Horm Res 2009 19;72(5):310-4. Epub 2009 Oct 19.

Department of Pediatrics, University Hospital Center Zagreb, Kispaticeva 12, HR-10000 Zagreb, Croatia.

Aims: To evaluate the incidence, gender, symptoms and age at diagnosis among patients with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in Croatia.

Methods: Data were collected retrospectively for all classical CAH patients born or electively aborted following prenatal diagnosis between 01.01. Read More

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http://dx.doi.org/10.1159/000245933DOI Listing
December 2009
18 Reads

Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies.

Horm Res 2009 19;72(5):302-9. Epub 2009 Oct 19.

The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, and Felsenstein Medical Research Center, IL-49202 Petach Tikva, Israel.

Background/aims: Mutations in the HESX1 gene are associated with a broad spectrum of phenotypes: septo-optic dysplasia, midline defects, pituitary abnormalities with consequent hypopituitarism, isolated growth hormone (GH) deficiency or combined pituitary hormone deficiencies (CPHD). This study examined the prevalence of mutations in the HESX1 gene in patients with CPHD.

Patients/methods: Sixty patients with sporadic CPHD without septo-optic dysplasia were screened for mutations in HESX1. Read More

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http://dx.doi.org/10.1159/000245932DOI Listing
December 2009
3 Reads

Effects of a twelve-week randomized intervention of exercise and/or diet on weight loss and weight maintenance, and other metabolic parameters in obese preadolescent children.

Horm Res 2009 19;72(5):287-301. Epub 2009 Oct 19.

The Jesse Z. and Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, and Felsenstein Medical Research Center, 14 Kaplan Street, IL-49202 Petah Tikva, Israel.

Aims: To compare the short- and long-term effects of intervention programs on body weight and cardiometabolic risk factors.

Methods: 162 obese children (6-11 years) were randomly assigned to three 12-week interventions with a 9-month follow-up period: exercise (E): 90 min moderate exercise 3 days/week (n = 52); diet (D): balanced hypocaloric diet, weekly meetings with dietician (n = 55), and diet + exercise (D+E) (n = 55). Changes in anthropometric variables, cardiometabolic profile and psychological outcome were assessed. Read More

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http://search.proquest.com/openview/166cb3ec48890576e634cc2c
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http://www.karger.com/doi/10.1159/000245931
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http://dx.doi.org/10.1159/000245931DOI Listing
December 2009
4 Reads

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Horm Res 2009 19;72(5):281-6. Epub 2009 Oct 19.

Institute of Biomedical Research, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

Background: Steroid 11-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Herein, we describe two novel CYP11B1 mutations (g659_660dupTG, p.M92X; g. Read More

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http://dx.doi.org/10.1159/000245930DOI Listing
December 2009
3 Reads

First two years' response to growth hormone treatment in very young preterm small for gestational age children.

Horm Res 2009 19;72(5):275-80. Epub 2009 Oct 19.

Pediatric Endocrinology Unit, Irmandade da Santa Casa de Misericórdia de São Paulo, Santa Casa de São Paulo Faculty of Medical Sciences, São Paulo, Brazil.

Background: Growth hormone (GH) is a therapeutic option for small for gestational age (SGA) children without spontaneous catch-up. There are few reports on preterm SGA children. Prematurity is an additional risk factor for adult short stature. Read More

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http://dx.doi.org/10.1159/000245929DOI Listing
December 2009
3 Reads

Regulation of pituitary function by cytokines.

Horm Res 2009 19;72(5):266-74. Epub 2009 Oct 19.

Laboratorio de Fisiología y Biología Molecular, Departamento de Fisiología y Biología Molecular y Celular, FCEN, Universidad de Buenos Aires, Buenos Aires, Argentina.

Research performed on the pituitary has proven that cytokines play an important role in maintaining pituitary physiology, affecting not only cell proliferation but also hormone secretion. The effects of cytokines can be autocrine or paracrine. This review gives an overview on the effects of the most studied cytokines in the pituitary. Read More

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http://dx.doi.org/10.1159/000245928DOI Listing
December 2009
4 Reads

Endocrine regulation of feto-placental growth.

Horm Res 2009 19;72(5):257-65. Epub 2009 Oct 19.

Department of Physiology, Development and Neuroscience, University of Cambridge, Physiology Building Downing Street, Cambridge CB2 3EG, UK.

Hormones are both growth stimulatory and growth inhibitory in utero. They regulate tissue growth and development by controlling the rates of cell proliferation, apoptosis and differentiation in many fetal tissues. They also signal the level of resources available for intrauterine growth to the fetal tissues and relay back to the placenta the degree of mismatch between the actual fetal nutrient supply and the fetal nutrient demands for growth. Read More

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http://dx.doi.org/10.1159/000245927DOI Listing
December 2009
4 Reads

Immune-mediated encephalitis and virilization in association with a mature cystic ovarian teratoma in an adolescent girl.

Horm Res 2009 29;72(4):252-6. Epub 2009 Sep 29.

Division of Pediatric Endocrinology, Children's Hospital at Montefiore, Bronx, New York, USA.

Background: Mature cystic teratomas are the most common form of ovarian tumor in children and adolescents. These tumors are mostly benign and non-secreting. Virilization from an ovarian teratoma is exceptionally rare in pediatrics. Read More

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http://dx.doi.org/10.1159/000236087DOI Listing
December 2009
3 Reads

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006.

Horm Res 2009 29;72(4):247-51. Epub 2009 Sep 29.

Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.

Aims: To evaluate the incidence, gender, symptoms and age at diagnosis of patients with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in Croatia.

Methods: Data were collected retrospectively for all classical CAH patients born or electively aborted following prenatal diagnosis between January 1, 1995 and December 31, 2006 and were compared with the data of a previously conducted study evaluating CAH patients discovered between 1964 and 1984.

Results: During a 12-year period 34 classical CAH patients were born. Read More

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http://dx.doi.org/10.1159/000236086DOI Listing
December 2009
5 Reads

Early puberty in internationally adopted girls: hormonal and clinical markers of puberty in 276 girls examined biannually over two years.

Horm Res 2009 29;72(4):236-46. Epub 2009 Sep 29.

Department of Growth and Reproduction GR-5064, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.

Background And Aims: Retrospective studies have indicated that internationally adopted girls are at high risk of developing precocious puberty. Hypothetically, this could be due to selection bias. The aim of this study was to determine age at reaching pubertal milestones in healthy internationally adopted girls in a prospective, clinical study. Read More

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http://dx.doi.org/10.1159/000236085DOI Listing
December 2009
4 Reads

Plant growth regulator (4-chlorophenoxy acetic acid) increases apoptosis in gonads of rats without changing hormonal levels.

Horm Res 2009 29;72(4):225-35. Epub 2009 Sep 29.

Department of Pediatric Endocrinology, Gazi University Medical School, Ankara, Turkey.

Background/aims: Plant growth regulators are considered to leave minimal amounts of remnants and therefore cause no significant side effects in humans. In this study, we aimed to investigate the hormonal and histopathological effects of 4-chlorophenoxy acetic acid (4-CPA), a commonly used plant growth regulator, on the gonadal functions of rats.

Methods: The study was implemented on 64 Wistar albino rats (20 days old). Read More

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http://dx.doi.org/10.1159/000236084DOI Listing
December 2009
16 Reads

Growth monitoring to detect children with cystic fibrosis.

Horm Res 2009 29;72(4):218-24. Epub 2009 Sep 29.

Department of Statistics, TNO Quality of Life, Leiden, The Netherlands.

Background/aims: Cystic fibrosis (CF) in infancy and childhood is often associated with failure to thrive (FTT). This would suggest that in countries without a newborn screening program for CF, FTT could be used as a clinical screening tool. The aim of this study is to assess the diagnostic performance of FTT for identifying children with CF. Read More

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http://dx.doi.org/10.1159/000236083DOI Listing
December 2009
3 Reads

Diagnostic approach in children with short stature.

Horm Res 2009 29;72(4):206-17. Epub 2009 Sep 29.

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.

For early detection of pathological causes of growth failure proper referral criteria are needed, as well as a thorough clinical, radiological and laboratory assessment. In this minireview we first discuss the two consensus-based and one evidence-based guidelines for referral that have been published. The evidence-based guidelines result in a sensitivity of approximately 80% at a false-positive rate of 2%. Read More

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https://www.karger.com/Article/FullText/236082
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http://dx.doi.org/10.1159/000236082DOI Listing
December 2009
5 Reads

Prolactinoma in children and adolescents.

Horm Res 2009 29;72(4):197-205. Epub 2009 Sep 29.

Endocrinology Unit, Department of Medicine, Hospital T. Alvarez, Buenos Aires, Argentina.

The evolution of prolactinomas in children and adolescents continues to be controversial. Girls have more prevalence of microprolactinomas and their signs and symptoms are related to hyperprolactinemia and the resulting hypogonadotrophic hypogonadism. In males, the greater incidence of macroadenomas results in the presence of neuro-ophthalmologic signs. Read More

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http://dx.doi.org/10.1159/000236081DOI Listing
December 2009
5 Reads

Positron emission tomography in the diagnosis and management of intracranial germ cell tumours.

Horm Res 2009 1;72(3):190-6. Epub 2009 Sep 1.

Department of Endocrinology, St Bartholomew's Hospital, London E1 5AG, UK.

Positron emission tomography (PET) with (18)F-fluorodeoxy-glucose indicates metabolically active tissue. When investigating enhancing intracranial tumours, we have suggested that PET positivity might suggest an intracranial germ cell tumour (IGCT). Here, we present a case with dicentric IGCT where PET was initially discordant between the lesions and where PET then became negative despite clearly aggressive clinical behaviour. Read More

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http://dx.doi.org/10.1159/000232496DOI Listing
November 2009
2 Reads

Ambulatory arterial stiffness index in Turner syndrome: the impact of sex hormone replacement therapy.

Horm Res 2009 1;72(3):184-9. Epub 2009 Sep 1.

Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital NBG, Aarhus University Hospital, DK-8000 Aarhus, Denmark.

Background: Morbidity and mortality from congenital and acquired cardiovascular (CV) disease is increased in Turner syndrome (TS), where traditional indices of CV risk are widely present but the single most common feature remains estrogen deficiency.

Aim: To investigate CV risk in TS as expressed by the widely available ambulatory arterial stiffness index (AASI) and the impact of female sex hormone replacement therapy (HRT) hereon.

Methods: TS women (n = 26) were examined following HRT washout and again during 6 months of HRT. Read More

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http://dx.doi.org/10.1159/000232495DOI Listing
November 2009
2 Reads

Target height estimation in children with idiopathic short stature who are referred to the growth clinic.

Horm Res 2009 1;72(3):178-83. Epub 2009 Sep 1.

Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Aim: It was the aim of this study to evaluate adult height (AH) and different methods used for estimation of target height (TH) in children with idiopathic short stature (ISS).

Methods: Eighty-five ISS children (36 female, 49 male) were followed until AH was evaluated retrospectively. TH was calculated according to the following 4 methods: (1) as +/-6. Read More

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http://dx.doi.org/10.1159/000232494DOI Listing
November 2009
16 Reads