Disorders of Sex Development
Abstract Disorders of sex development (DSD) are rare disorders occurring when there is a discordance between chromosomal, gonadal, or phenotypic sex. These occur in the presence of genetic mutations that…
Androgen Insensitivity Due to Mutations of the Androgen Receptor
Abstract Androgens are critical to the normal developmental processes in vertebrates, affecting the development of the normal male phenotype during embryogenesis and regulating a range of processes in adults. In…
Congenital Adrenal Hyperplasia
Abstract Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders in which genetic enzyme deficiencies impair normal steroid synthesis. The production of cortisol in the zona fasciculata…
Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
Abstract Normal menstrual cycling results from a complex and integrated process that requires the temporal coordination of hormonal secretion and signalling within the hypothalamic-pituitary-ovarian axis. Disruption of these signals at…
Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance
Abstract In the last 30 years, an unprecedented production of new knowledge about the adrenal glands has led to subspecialization in the field: enzymatic deficiencies of steroidogenesis are mostly associated with…
Hereditary Syndromes Involving Pheochromocytoma and Paraganglioma
Abstract Pheochromocytomas are neural crest-derived tumors of the adrenal medulla; paragangliomas are extra-adrenal pheochromocytomas. An accurate family and medical history is required to determine the risk for an inherited syndrome….
Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes
Abstract Considerable advances toward understanding the molecular mechanisms of adrenocortical tumors (ACT) development have recently been made. The study of rare genetic syndromes associated with ACT has greatly facilitated progress…
Vitamin D Disorders
Abstract Inherited disorders in the metabolism and recognition of vitamin D cause hypocalcemia, hypophosphatemia, and severe skeletal deformities classic for rickets. Mutations of the 25-hydroxyvitamin d -1-hydroxylase are responsible for…
Genetic Diagnosis of Skeletal Dysplasias
Abstract Genetic skeletal disorders make up one of the largest groups among rare inherited conditions. Referred to as skeletal dysplasias, these hereditary diseases of bone may be classified according to…
Genetics of Hyperparathyroidism Including Parathyroid Cancer
Abstract The genetic basis for several of the familial hyperparathyroid syndromes has been identified, and in these instances, genetic testing can make important (and at times lifesaving) contributions to patient/family…
