Rare Genetic Disorders Altering Lipoproteins

ABSTRACT   The aim of this chapter is to examine other, less common genetic disorders including elevations of lipoprotein(a); disorders of high density lipoprotein (familial hypoalphalipoproteinemia, Tangier disease, and LCAT deficiency); familial hypocholesterolemias (familial hypobetalipoproteinemia, abetalipoproteinemia, PCSK9 loss of function mutations, familial combined hypolipidemia, and chylomicron retention disease); ß-sitosterolemia; cerebrotendinous xanthomatosis, and lysosomal acid lipase […]

The Iodine Deficiency Disorders

ABSTRACT This chapter provides an overview of the disorders caused by iodine deficiency. Extensively referenced, it includes data on dietary sources of iodine, goitrogens, the effects of iodine deficiency throughout the lifecycle, the pathophysiology of iodine deficiency, as well as strategies for control and monitoring of the iodine deficiency disorders, such as iodized salt and […]

Disorders of the Thyroid Gland in Infancy, Childhood and Adolescence

This chapter is, in part, based on the previous version written by Prof. Rosalind Brown. ABSTRACT Thyroid disorders in infancy, childhood and adolescence represent common and usually treatable endocrine disorders. Thyroid hormones are essential for normal development and growth of many target tissues, including the brain and the skeleton. Thyroid hormone action on critical genes […]

The Neurohypophysis: Endocrinology of Vasopressin and Oxytocin

ABSTRACT The neurohypophysis is the structural foundation of a neuro-humoral system coordinating fluid balance and reproductive function through the action of two peptide hormones: vasopressin and oxytocin. Vasopressin is the principle endocrine regulator of renal water excretion, facilitating adaptive physiological responses to maintain plasma volume and plasma osmolality. Oxytocin is important in parturition and lactation. […]

Disorders of Growth Hormone in Childhood

ABSTRACT The diagnosis of growth hormone deficiency is made by combining information from auxology, biochemistry and neuroimaging. GH signal transduction is not induced by GHR dimerisation but by a conformational change in the predimerised GHR leading to repositioning of the BOX1 motifs. In addition to GH defieincy and Laron syndrome there are now additional disorders […]

The Measurement of Lipids, Lipoproteins, Apolipoproteins, Fatty Acids, and Sterols, and Next Generation Sequencing for the Diagnosis and Treatment of Lipid Disorders

ABSTRACT Standard lipid analysis includes measuring serum or plasma total cholesterol, triglycerides, and high density lipoprotein cholesterol (HDL-C) after an overnight fast. Low density lipoprotein cholesterol (LDL-C) is then calculated. Our own prospective studies from the Framingham Offspring Study indicates that LDL-C, small dense LDL-C (sdLDL-C), lipoprotein(a) or Lp(a), and HDL particle measurements add significant […]

Benign Prostate Disorders

ABSTRACT Benign prostatic hyperplasia (BPH) is among the commonest urological abnormality affecting the aging male. The cause of the increase in prostatic volume is multifactorial, but current research has implicated hormonal aberrations. Clinical assessment of the patient is integral to determining the optimal treatment strategy. Exclusion of prostatic cancer and complications of BPH are critical […]

Disorders in Vitamin D Action

INTRODUCTION Vitamin D derived from endogenous production in the skin or absorbed from the gut is transformed into its active form by two successive steps: hydroxylation in the liver to 25-hydroxyvitamin D [25(OH)D] followed by 1a-hydroxylation in the renal proximal tubule to 1,25-dihydroxyvitamin D (1,25(OH)2D-calcitriol). Some other cells exhibit 1α-hydroxylase activity: placental decidual cells, keratinocytes, […]

Sexual Differentiation

ABSTRACT   The chromosomal sex of the embryo is established at fertilization. However, 6 weeks elapse in humans before the first signs of sex differentiation are noticed. Sex differentiation involves a series of events whereby the sexually indifferent gonads and genitalia progressively acquire male or female characteristics. Believed initially to be governed entirely by the […]

Laboratory Assessment of Testicular Function

ABSTRACT   Since the symptoms of hypogonadism are nonspecific, and the signs of testosterone deficiency can be subtle and slow to develop, the assessment of testicular function relies heavily on laboratory testing. The laboratory diagnosis of hypogonadism is based on a consistent and unequivocally low serum total testosterone level measured in blood samples obtained in […]