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 […]

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 […]

Androgen Physiology: Receptor and Metabolic Disorders

ABSTRACT   Androgens are an important class of C19 steroid hormones that control normal male development and reproductive function. The main circulating androgen is testosterone, which is produced in the Leydig cells of the testis and can also act as a pro-hormone after being metabolized to dihydrotestosterone (DHT) or estradiol (E2). The biological actions of […]


ABSTRACT   The adrenal gland in conjunction with the pituitary gland is one of the major components of the endocrine system and regulates blood volume, blood pressure, serum electrolytes, and stress responses. Dysfunction of the adrenal glands may be related to diseases of the adrenal glands or pituitary gland. Adrenal disorders may present either due […]

Growth and Growth Disorders

ABSTRACT   The process of growth is complex and is influenced by various factors that act centrally and peripherally. The genetic control of human growth is becoming increasingly clear. Many genes have been identified that contribute to the development and function of the pituitary gland including the somatotrope and the GH/IGF1 axis.  Genes encoding “downstream” […]

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 […]

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 […]