Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Large MtTW15 pituitary tumors produced 200- to 800-fold elevations in serum growth hormone (GH) and prolactin (PRL) levels. Female tumor hosts showed doubling in body weight, milk secretion, and a 2-fold hepatosplenomegaly. Pituitaries of host animals were reduced by about 50% in both weight and concentrations of GH and PRL. Large tumors were well-encapsulated, multinodular and showed variable amounts of necrosis and hemorrhage. Cytofluorometric analysis revealed a range of 100-fold in nuclear DNA content of tumor parenchymal cells which were chromophobic, pleomorphic and frequently mitotic. Concentrations of hormones in tumors were less than in normal pituitaries and highly variable with the ratio of GH/PRL ranging up to 30-fold within the same tumor. Immunostaining and linear scanning quantitation showed that about 50% of the tumor cells contained immunodetectable hormones. Comparison of immunostained adjacent sections showed that hormone-containing tumor cells were pleomorphic, unequally distributed within nodules, lacking in distinctive identifying morphological characteristics and that they contained GH or PRL but not both hormones simultaneously. Collectively our results show that large MtTW15 tumors are comprised of a markedly heterogeneous population of tumor cells and they suggest that the hormone-containing cells are monohormonal secreting tumor cells which can produce GH or PRL but not both hormones.
 ...
PMID:Heterogeneity of the MtTW15 mammosomatotropic tumor. I. Light microscopic evaluation of cell types by means of immunocytochemistry, morphometric quantitation, fluorescence cytophotometry and radioimmunoassay. 34 70

We report on a new X-linked recessive syndrome in 2 unrelated families, consisting of pre- and postnatal growth excess, typical facial phenotype allowing diagnosis at birth, and usually normal physical and intellectual development. The minor anomalies seen at birth include a "coarse" face with wide nasal bridge, short nose with upturned nasal tip, wide open mouth, thick lips, midline depression of the lower lip, enlarged tongue, highly arched palate, large maxilla and jaw, and a short broad neck. Voice is hoarse and affected individuals have a plump, stocky body with pectus excavatum, thoracic scoliosis, hepatosplenomegaly, umbilical and/or inguinal hernias, broad short hands and feet, and in some cases preauricular dimples, abnormal ears, postaxial hexadactyly, hypoplastic index finger nails, and abnormal dermatoglyphics. Early postnatal death is frequent and pathogenetically unexplained. During infancy and childhood the leading manifestations are the overgrowth (greater than 97th centile), striking facial appearance, hypodontia and/or malposition of teeth, genua valga, hypoplastic calf muscles, and clumsiness. Adolescent and adult patients have well proportioned "gigantism" of athletic build (192-210 cm), large "coarse" face, and a deep voice. General intellectual and motor development are either normal or mildly delayed. Results of routine laboratory tests are normal, as are growth hormone and IGF I levels and chromosomes. Pathogenesis remains unknown. Heterozygotes may show some of the characteristic facial changes.
 ...
PMID:A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family. 317 54

The Prasad Syndrome is characterized by iron deficiency anemia, hepatosplenomegaly, skin changes, hypogonadism, dwarfism and geophagia. Hypogonadism is a major manifestation of zinc (Zn) deficiency in both humans and animals. T he mechanism of hypogonadism caused by Zn deficiency has not been clarified. We present a 19 year-old boy with short stature, pubertal arrest, iron deficiency anemia and Zn deficiency. Based on the dynamic tests, the hypogonadism seems to be due to hypothalamic dysfunction. T he growth retardation was associated with low IGF-I and normal growth hormone (GH) secretion, indicating GH receptor or post receptor defect. Growth acceleration and testicular development was observed after Zn supplementation. Zn deficiency, although very rare, should be considered in patients with poor growth and hypogonadism associated with skin changes and anemia.
 ...
PMID:Pubertal arrest due to Zn deficiency: the effect of zinc supplementation. 1732 20

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion.
...
PMID:A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism. 2657 9