A Practical Approach to Children with Recurrent Fractures.
Abstract
As many as 50% of children will sustain a fracture before 18 years of age, and up to 20% will have two or more fractures. A small proportion of children who experience multiple fractures have osteoporosis, either from a genetic bone disorder (primary osteoporosis) or secondary to another underlying medical condition (secondary osteoporosis). Fracture history, together with bone mineral density assessment and vertebral radiographs, help clinicians to identify children with osteoporosis. Its aetiology can usually be determined through the combination of a detailed medical history and physical examin...
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Korula S, Titmuss AT, Biggin A, Munns CF Tags: Endocr Dev Source Type: research
Miscellaneous Bone Disorders.
Abstract
This chapter deals with a few of the important childhood bone disorders associated with high bone mass as well as conditions associated with fragility fractures and limb deformities that have not been addressed in previous chapters. A couple of skeletal dysplasias that can sometimes be confused with rickets are also dealt with in this chapter. © 2015 S. Karger AG, Basel.
PMID: 26138845 [PubMed - in process] (Source: Endocrine Development)
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Mughal MZ, Padidela R Tags: Endocr Dev Source Type: research
Skeletal Aspects of Non-Accidental Injury.
Abstract
Inflicted non-accidental skeletal injuries form a small but important part of the spectrum of child abuse, with the majority of skeletal injuries occurring in children under 2 years of age. Radiology plays a vital role in the detection and evaluation of these skeletal injuries. A thorough detailed radiological evaluation should be undertaken to investigate a child appropriately for a suspected inflicted non-accidental injury to accurately detect and possibly date any injuries and also to exclude normal variants of growth that may mimic fractures. In some cases, the survey may diagnose an underlyin...
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Johnson K, Bradshaw K Tags: Endocr Dev Source Type: research
Skeletal Dysplasias: An Overview.
This article summarises a systematic approach to the diagnosis of SDs, demonstrated using examples of some of the more common lethal and non-lethal conditions. © 2015 S. Karger AG, Basel.
PMID: 26138847 [PubMed - in process] (Source: Endocrine Development)
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Offiah AC Tags: Endocr Dev Source Type: research
Drugs Used in Paediatric Bone and Calcium Disorders.
Abstract
Calcium and bone disorders in children and adolescents are treated with a wide variety of drugs. Several of these drugs have been used for many years on the basis of accepted practice, without being subjected to rigorous trials. Bisphosphonates are the mainstay treatment for children with osteoporosis, but newer, more potent compounds such as zoledronate and risedronate have begun to replace the older-generation bisphosphonates. Hypocalcaemia is managed with calcium and vitamin D and its metabolites. In difficult cases that are secondary to hypoparathyroidism, subcutaneous injections or infusions ...
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Cheung MS Tags: Endocr Dev Source Type: research
Classification of Disorders of Bone and Calcium Metabolism.
Abstract
Classification is a natural human trait that enables us to put what may otherwise be very complex subjects into some order. However, classification should be seen not as an end in itself but rather as a means to help us understand certain topics. In the case of medicine, classification helps to provide information about the causes underlying many of the conditions encountered and, in some cases, provides a rationale for developing new treatments. This chapter aims to provide a helpful (if complex) classification of diseases of bone and calcium and, where known, to describe the underlying genetic m...
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Allgrove J Tags: Endocr Dev Source Type: research
Case Histories.
Abstract
Conditions related to abnormalities of calcium and bone metabolism are large in number and are characterised by hypocalcaemia, hypercalcaemia, primary and secondary osteoporosis, rickets resulting from both vitamin D and phosphate metabolism disorders, and a series of miscellaneous conditions. Included in this chapter is a series of cases drawn from our clinics and from colleagues who have presented these clinical problems at the recent Advanced Courses in Paediatric Bone and Calcium Metabolism run by the British Paediatric and Adolescent Bone group. This series of cases is not fully comprehensive...
Source: Endocrine Development - July 5, 2015 Category: Endocrinology Authors: Katugampola H, Saraff V, Kumaran A, Allgrove J, Shaw NJ Tags: Endocr Dev Source Type: research
Understanding differences and disorders of sex development. Foreword.
PMID: 25373247 [PubMed - in process] (Source: Endocrine Development)
Source: Endocrine Development - November 10, 2014 Category: Endocrinology Authors: Hiort O, Ahmed SF Tags: Endocr Dev Source Type: research
Understanding differences and disorders of sex development. Preface.
PMID: 25373248 [PubMed - in process] (Source: Endocrine Development)
Source: Endocrine Development - November 10, 2014 Category: Endocrinology Authors: Hughes I, Lee P Tags: Endocr Dev Source Type: research
Gonadal development.
Abstract
The commitment of the embryonic gonad towards the male or female fate is a sequential and complex developmental process. The sex-independent growth and development of the adrenogonadal primordium into the bipotential gonadal ridge is committed to the formation of testis in the presence of the SRY gene on the Y chromosome. SRY upregulates the expression of SOX9 that sets into motion a cascade of complex genetic interactions for the formation of male internal and external genitalia whilst repressing the formation of female genitalia. The initiation and maintenance of somatic sex of the gonad as eith...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Lucas-Herald AK, Bashamboo A Tags: Endocr Dev Source Type: research
The masculinization programming window.
Abstract
Sexual differentiation is a tightly regulated series of events which transform the indifferent gonads and genitalia into sex-specific structures. This is driven by hormones produced by the fetal testes, primarily testosterone (T). However, masculinization of each structure does not occur synchronously and, until recently, it was presumed that androgens also control this masculinization over a broad period of fetal life, coincident with the period of fetal T production. However, a common fetal masculinization programming window (MPW) has been identified in male and female rodent models in which and...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Welsh M, Suzuki H, Yamada G Tags: Endocr Dev Source Type: research
Androgen action.
Abstract
Androgens are important for male sex development and physiology. Their actions are mediated by the androgen receptor (AR), a ligand-dependent nuclear transcription factor. The activity of the AR is controlled at multiple stages due to ligand binding and induced structural changes assisted by the foldosome, compartmentalization, recruitment of coregulators, posttranslational modifications and chromatin remodeling, leading to subsequent transcription of androgen-responsive target genes. Beside these short-term androgen actions, there is phenomenological and experimental evidence of long-term androge...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Werner R, Holterhus PM Tags: Endocr Dev Source Type: research
Steroid biochemistry.
Abstract
Accurate analysis of steroid hormones represents an essential part in the evaluation of a patient with disorders or differences in sex development. Analytical methods based on mass spectrometry (MS) have become the state-of-the-art methodology allowing for the most specific qualitative and quantitative determination of steroid hormones and their metabolites. Liquid chromatography linked with tandem MS (LC-MS/MS) allows for rapid as well as highly specific and sensitive targeted steroid hormone analysis of multiple analytes from a single sample. Urinary steroid profile analysis by gas chromatograp...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Kamrath C, Wudy SA, Krone N Tags: Endocr Dev Source Type: research
Next generation sequencing for disorders of sex development.
Abstract
Advances in sequencing technologies are having a major impact on our understanding of the genetic causes of many human congenital disorders. Next generation sequencing (NGS) approaches are particularly important for determining the inherited genetic changes leading to disorders of sex development (DSD). Knowledge of the genetic pathways involved in ovary or testis development is incomplete and, currently, a molecular diagnosis is made in a minority of DSD cases. Here, we review the different NGS strategies applied to the analysis of rare diseases and highlight the potential pitfalls and advantages...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Tobias ES, McElreavey K Tags: Endocr Dev Source Type: research
Advances in neuroimaging.
Abstract
Over the last 20 years there have been great advances in the field of neuroimaging. However, information is still lacking for patients with a disorder of sex development (DSD) due to the rarity of these conditions. In this chapter the authors will review newly emerging techniques with a focus on the connectivity of the brain, describe sexually dimorphic brain structures and functions, and summarise what is known about the neuroanatomy and neurochemistry of individuals with a DSD. Sexual dimorphism exists in all aspects of neuroanatomy, neurochemistry and neurofunction, but the major challenge is t...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Rodie ME, Forbes KP, Muir K Tags: Endocr Dev Source Type: research
