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Correction: Cushing syndrome in paediatric population: who and how to screen
No full textIn the original version of this article, some part of the Funding information was missing. The funding information was previously read “This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector” Should have been “This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector. Open Access funding for this article was provided by Recordati Rare Diseases Italy S.r.l. The funder had no role in the preparation, review, or approval of the manuscript.” The original article has been corrected
Update on bone density measurements and their interpretation in children and adolescents
No full textFollowing the increased awareness about the central role of the pediatric age in building bone for life, clinicians face more than ever the necessity of assessing bone health in pediatric subjects at risk for early bone mass derangements or in healthy children, in order to optimize their bone mass accrual and prevent osteoporosis. Although the diagnosis of osteoporosis is not made solely upon bone mineral density measurements during growth, such determination can be very useful in the follow-up of pediatric patients with primary and secondary osteoporosis. The ideal instrument would give information on the mineral content and density of the bone, and on its architecture. It should be able to perform the measurements on the skeletal sites where fractures are more frequent, and it should be minimally invasive, accurate, precise and rapid. Unfortunately, none of the techniques currently utilized fulfills all requirements. In the present review, we focus on the pediatric use of dual–energy X-ray absorptiometry (DXA), quantitative computed tomography (QCT), peripheral QCT (pQCT), and magnetic resonance imaging (MRI), highlighting advantages and limits for their use and providing indications for bone densitometry interpretation and of vertebral fractures diagnosis in pediatric subjects
Insufficienza surrenalica: Rara ma non troppo
No full textAdrenal insufficiency is a rare condition in childhood. Clinical characteristics of adrenal insufficiency in children may be non-specific. Therefore, the diagnosis may be suspected late. If unrecognized, adrenal insufficiency may present with life-threatening cardiovascular collapse. In this article, current knowledge of the clinical manifestations, diagnosis, and treatment of adrenal insufficiency in children and factors precipitating adrenal crisis are summarized
La ginecomastia: Cosa deve sapere il pediatra
No full textGynecomastia is the glandular proliferation of male breast tissue, involving up to 65% of men in their lifetime. It is often a benign condition, but it can be the sign of a serious endocrine disease and the source of significant physical and psychological stress. It is important to understand its pathogenesis in order to distinguish a normal developmental variant from pathological causes and to guide a correct treatment on its specific cause
Sirolimus Therapy in Congenital Hyperinsulinism: A Successful Experience Beyond Infancy
No full textCongenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, followed by partial pancreatectomy, which is often not resolutive. Sirolimus, a mammalian target of rapamycin inhibitor, was reported to be effective in treating CHI in infants. We report here the case of an 8-year-old boy affected by a severe form of CHI due to a biallelic heterozygous ABCC8 mutation who responded to sirolimus with a dramatic improvement in his glucose blood level regulation and quality of life, with no serious adverse events after 6 months of follow-up. To the best of our knowledge, this is the first report of a successful intervention in an older child. It provides a promising basis for further studies comparing sirolimus with other treatments, particularly in older children
Il timo ectopico nella diagnosi differenziale delle masse del collo
No full textEctopic thymus is a rare benign cause of paediatric neck masses. Because of embryologic
migrational defects, ectopic thymic remnants can be found along the descent
pathway from the mandible angle to the superior mediastinum. Clinically, between 2
and 13 years of age, ectopic thymus presents as a painless neck mass, secondary to hyperplasia
(like in the normal thymus gland). Ectopic thymus rarely determinates symptoms
of compression of adjacent cervical structures. Radiologic imaging and biopsy (especially
in cases of intra-thyroidal nodules) help to determine the nature of the mass. If
ectopic thymus is definitively diagnosed before surgery, it can be treated conservatively.
In asymptomatic cases surgery is not mandatory because there is no convincing evidence
of malignant degeneration and bleeding is very rare and typical of adulthood. A
spontaneous involution of thymic tissue after puberty is expected
Approach to the Pediatric Patient: Central Diabetes Insipidus
No full text: Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of disorders affecting the hypothalamic-posterior pituitary network. The differential diagnosis is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies, and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating congenital or acquired cerebral and pituitary stalk lesions. Pituitary stalk size at presentation could be normal, but it may change over time, depending on the underlying condition, while other brain areas or organs may become involved during follow-up. Early diagnosis and treatment are crucial to avoid central nervous system damage and germ cell tumor dissemination and to minimize complications of multiple pituitary hormone defects. We provide a practical update on the diagnosis and management of patients with CDI and highlight several pitfalls that may complicate the differential diagnosis of conditions presenting with polyuria and polydipsia. The need for a careful and close follow-up of patients with apparently idiopathic CDI is particularly emphasized because the underlying condition may be recognized over time. The clinical scenario that we outline at the beginning of this article represents the basis for the discussion about how the etiological diagnosis of CDI can be overlooked and demonstrates how a water intake and urine output improvement can be a sign of progressive damage of both hypothalamus and anterior pituitary gland with associated pituitary hormonal deficiencies.Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of disorders affecting the hypothalamic-posterior pituitary network. The differential diagnosis is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies, and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating congenital or acquired cerebral and pituitary stalk lesions. Pituitary stalk size at presentation could be normal, but it may change over time, depending on the underlying condition, while other brain areas or organs may become involved during follow-up. Early diagnosis and treatment are crucial to avoid central nervous system damage and germ cell tumor dissemination and to minimize complications of multiple pituitary hormone defects. We provide a practical update on the diagnosis and management of patients with CDI and highlight several pitfalls that may complicate the differential diagnosis of conditions presenting with polyuria and polydipsia. The need for a careful and close follow-up of patients with apparently idiopathic CDI is particularly emphasized because the underlying condition may be recognized over time. The clinical scenario that we outline at the beginning of this article represents the basis for the discussion about how the etiological diagnosis of CDI can be overlooked and demonstrates how a water intake and urine output improvement can be a sign of progressive damage of both hypothalamus and anterior pituitary gland with associated pituitary hormonal deficiencies
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