46,XY Disorders of Sexual Development

ABSTRACT The 46,XY disorders of sex development (46,XY DSD) are characterized by atypical or female external genitalia, caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. Male gonads are identified in the majority of 46,XY DSD patients, but in some of them no gonadal tissue is found. Complete absence of virilization […]

The Effect of Endocrine Disorders on Lipids and Lipoproteins

ABSTRACT   Endocrine disorders and the administration of various hormones can alter lipid metabolism and plasma lipid levels, which may increase or decrease the risk of atherosclerotic cardiovascular disease. In many instances the literature is not consistent with various studies reporting different results. These differences may be due to a variety of factors such as […]

Gastrointestinal Disorders in Diabetes

ABSTRACT   Gastrointestinal manifestations of type 1 and 2 diabetes are common and represent a substantial cause of morbidity and health care costs, as well as a diagnostic and therapeutic challenge. Predominant among them, and most extensively studied, is abnormally delayed gastric emptying or diabetic gastroparesis. Abnormally increased retention of gastric contents may be associated […]

Pituitary and Adrenal Disorders of Pregnancy

ABSTRACT   The pituitary and adrenal glands play an integral role in the endocrine and physiological changes of normal pregnancy. This is associated with alterations in the normal ranges of endocrine tests and in the appearance of the glands. It is important for the medical team to be aware of the altered normal ranges for […]

Disorders of Sexual Differentiation in Newborns

INTRODUCTION         In 2006, new nomenclature for conditions previously referred to as intersex was proposed in a consensus statement from the Lawson Wilkins Pediatric Endocrine Society and European Society of Pediatric Endocrinology in response to advanced identification of molecular genetic causes of sex. Disorders of sexual differentiation (DSD) are congenital conditions within which the development […]

Calcium and Phosphate Metabolism and Related Disorders During Pregnancy and Lactation

ABSTRACT Pregnancy and lactation require women to provide calcium to the fetus and neonate in amounts that may exceed their normal daily intake. Specific adaptations are invoked within each time period to meet the fetal, neonatal, and maternal calcium requirements. During pregnancy, intestinal calcium absorption more than doubles, and this appears to be the main […]

Primary Disorders of Phosphate Metabolism

ABSTRACT   Phosphorus is critical to many functions in human biology. Deprivation of phosphorus may manifest as disorders of the musculoskeletal system, reflecting its important role in energy metabolism and skeletal mineralization. Phosphorus excess can promote heterotopic mineralization and is associated with mortality, particularly in the setting of chronic kidney disease. Inorganic phosphorus, primarily occurring […]

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 […]

Growth and Growth Disorders

ABSTRACT   The process of growth is complex and is influenced by various factors that act centrally and peripherally.  In this chapter, we describe conditions associated with multiple pituitary hormone deficiency, isolated growth hormone deficiency, and abnormal growth without growth hormone deficiency, discuss the genes that are associated with these conditions, and prepare guidelines for […]

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 […]