PubMed · 6652933
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1983. [Endocrinology case presentation].. https://pubmed.ncbi.nlm.nih.gov/6652933/
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The complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas (the Carney complex) is a multisystem tumorous disorder that is transmitted as a mendelian autosomal dominant trait. Approximately 150 affected patients are known worldwide. The myxomas, which tend to be multiple in the involved organ, affect the heart, skin and breast. Typical sites for the skin myxomas are the eyelids, external ear canal, and nipples. The lesions commonly recur after excision. The spotty skin pigmentation includes lentigines and blue nevi, but ephelides and junctional and compound nevi also occur. The lentigines are widespread and typically involve the centrofacial area, including the vermilion border of the lips, and the conjunctiva, especially the lacrimal caruncle and the conjunctival semilunar fold. One or more intraoral pigmented spots are seen occasionally. The blue nevi occur on the face, trunk, and limbs, but not the hands and feet. Endocrine overactivity includes Cushing's syndrome (caused by primary pigmented nodular adrenocortical disease), acromegaly (caused by growth hormone-producing pituitary adenoma), and sexual precocity (caused by large-cell calcifying Sertoli cell tumor). The schwannomas are a special histological type, featuring psammoma bodies and melanin. Most commonly, they affect the upper gastrointestinal tract and sympathetic nerve chains, but a few have occurred in the skin. The most serious component of the Carney complex is cardiac myxoma. Patients suspected of having the syndrome (and their primary relatives) should be examined for this neoplasm.
Disturbed human reproductive function may be caused by environmental and/or genetic factors. Much information related to single gene defects underlying reproductive failure has become available in recent years due to advances in molecular biology. In this review, techniques currently applied for deoxyribonucleic acid (DNA) analysis are addressed. We also highlight underlying molecular mechanisms and the corresponding clinical presentation of single gene defects affecting (i) the hypothalamic-pituitary-gonadal axis, resulting in disturbed gonadotrophin-releasing hormone (GnRH) neuron migration, or leading to defective gonadotrophins, gonadotrophin receptors and the Gs alpha protein; (ii) gonadal and adrenal steroid biosynthesis and (iii) steroid and insulin receptors. The potential genetic basis of polycystic ovary syndrome is also discussed. Although disease states caused by well-defined genetic abnormalities appear to represent only a small proportion of those found in the patient population, it should be considered that these affected individuals represent only the most severe cases in a wide spectrum of genetic abnormalities underlying disturbed fertility. Comprehension of these extreme cases will provide the basis for the elucidation of more common reproductive disorders as the result of subtle genetic changes or increased susceptibility to environmental factors.
The secretion of many hormones is regulated by extracellular signals, such as hormones, growth factors, neurotransmitters, and ions, that mediate signal transduction via a G protein-coupled pathway. Three components comprise the G protein-coupled pathway: the G protein-coupled receptor, the G protein, and the effector. G protein-coupled receptors allow cells to respond to external stimuli and comprise a large superfamily with hundreds of members. G proteins function as signal transducers between ligand-bound receptors and intracellular effectors. G protein-regulated effectors include enzymes of second messenger metabolism, such as adenylyl cyclase, phospholipase C, cyclic GMP phosphodiesterase, and ion channels. Abnormalities in any of these three components alter signal transduction and can lead to human disease. For example, mutations of G protein-coupled receptors that promote G protein activation in the absence of an agonist cause retinitis pigmentosa, hyperthyroidism due to hyperfunctioning thyroid adenomas and thyroid hyperplasia, male-limited precocious puberty, and hypocalcemia. Human disorders attributed to constitutively activating mutations of the alpha subunit of Gs include the McCune-Albright syndrome, adrenocorticotropic hormone-independent Cushing's syndrome, and functional endocrine tumors.