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The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature
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Glycemic control by treatment modalities: national registry-based population data in children and adolescents with type 1 diabetes
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KEY STAGES IN THE DEVELOPMENT AND ESTABLISHMENT OF PAEDIATRIC ENDOCRINOLOGY - A TEMPLATE FOR FUTURE PROGRESS
Background Paediatric endocrinology became recognised in Western European countries in the 1960s and 1970s. It is now a th...
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Hormone Replacement Therapy After Pubertal Induction in Adolescents and Young Adults with Turner Syndrome: A Survey Study.
Introduction: Turner syndrome (TS) is associated with primary ovarian insufficiency (POI) and most adolescents and young a...
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A critical review of upcoming new therapeutic options in paediatric endocrinology
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Effect of Growth Hormone Therapy on Pubertal Timing: Systematic Review and Meta-analysis
Introduction Recombinant human growth hormone (rhGH) therapy effectively increases height in various disorders of childhoo...
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Assessment of nutritional status in the diagnostic evaluation of the child with growth failure
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Growth hormone dose modulation and final height in short children born small for gestational age: French real-life data
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Improvements in glucose regulation in children and young people with cystic fibrosis related diabetes following initiation of Elexacaftor/Tezacaftor/Ivacaftor
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The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)
Introduction. Among children born small for gestational age, 10-15% fails to catch-up and remains short (SGA-SS). The und...
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Why should orchidopexy be performed in congenital hypogonadotropic hypogonadism, and when?
Background: In otherwise normal boys with undescended testes, early orchidopexy is recommended to preserve fertility, to d...
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Weekly Growth Hormone (Lonapegsomatropin) Causes Severe Transient Hyperglycemia in a Child with Obesity
Abstract Introduction: A 12-year-9-month-old non-Hispanic black male with a history of growth hormone deficiency (GHD), pi...
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Molecular genetic analysis and growth hormone treatment in a three-generation Chinese family with Tricho-rhino-phalangeal syndrome I
Background: Tricho-rhino-phalangeal syndrome (TRPS) is a rare genetic disorder characterized by craniofacial and skeletal ...
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Reversible hypothalamic obesity in a girl with suprasellar tuberculoma
Introduction: Suprasellar tuberculoma are extremely rare in children and most of those patients present with headache, vom...
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The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome
Introduction: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 ...
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An Overlooked Manifestation of Hypercortisolism - Cerebral Cortical Atrophy and Challenges in Identifying the Etiology of Hypercortisolism: A Report of 2 Pediatric Cases
Introduction: Endogenous Cushing’s syndrome (CS) is a rare, severe disease that can cause multiple systemic involvement an...
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Author Index Vol. 96, No. 1, 2023
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Subject Index Vol. 96, No. 1, 2023
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11th International Meeting of Paediatric Endocrinology (IMPE) - Abstracts
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XXX Annual Meeting of the Latin American Pediatric Endocrinology Society (SLEP) Bogota, Colombia, October 19-22, 2022
XXX Annual Meeting of the Latin American Pediatric Endocrinology Society (SLEP) Bogota, Colombia, October 19–22, 2022
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Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics
Introduction: Activating mutation of the calcium-sensing receptor gene (CASR) reduces parathyroid hormone secretion and re...
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Compromised adult height in females with non-classical congenital adrenal hyperplasia diagnosed in childhood
Introduction Data on adult height (AHt) in individuals with non-classical congenital adrenal hyperplasia (NCCAH) are incon...
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Review of implant gonadotrophin-releasing hormone agonist use: experience in a single academic center
Background: Gonadotrophin-releasing hormone agonists (GnRHa) are used for puberty suppression in central precocious pubert...
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Rhabdomyolysis: A rare presentation of Hashimoto thyroiditis in an adolescent boy and review of the literature
Introduction: Hypothyroidism-induced rhabdomyolysis without precipitating factors is extremely rare, particularly in pedia...
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Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation
<b><i>Introduction:</i></b> Inactivating mutations of the calcium-sensing receptor (<i>CASR&...
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Infants with Congenital Adrenal Hyperplasia Exhibit Thalamic Discrepancies in Early Brain Structure
Introduction: Patients with classical congenital adrenal hyperplasia (CAH) have prenatal and postnatal hormonal imbalances...
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Patient and parent perspectives on testicular adrenal rest tumors in congenital adrenal hyperplasia
Background: Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital adre...
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Raised Thyroid Stimulating Hormone in Girls with Polycystic Ovary Syndrome: Effects of Randomized Interventions
Introduction Polycystic ovary syndrome (PCOS) in women associates with raised levels of circulating thyroid stimulating ho...
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Adrenal Insufficiency in Peroxisomal Disorders: a Single Institution Case Series
Introduction: There are two major categories of peroxisomal disorders (PD): Peroxisomal biogenesis disorders (PBD) due to ...
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Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency
Introduction: The metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) cleaves insulin-like growth factor (I...
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