SEARCH · PubMed Health

Results for “DWARFISM, PITUITARY”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources

PubMed1993

[MR imaging of pituitary dwarfism].

Pituitary MR imaging was performed in 32 patients with clinically diagnosed pituitary dwarfism and 12 normal controls. The patients were divided into two groups according to the severity of pituitary dwarfism based on endocrinological data. The two patients with severe dwarfism showed transection of the pituitary stalk, ectopic posterior lobe and atrophy of the anterior lobe on MR imaging, while the 27 patients with mild dwarfism showed no abnormal MR findings of the pituitary gland. The former group corresponds to typical pituitary dwarfism and the latter to partial GH deficiency, which was recently proposed as another type of pituitary dwarfism. In conclusion, pituitary MR imaging may differentiate partial GH deficiency from typical (stalk-transected) pituitary dwarfism.

Adolescent↗

PubMed1971

Genetic forms of pituitary dwarfism.

Pituitary dwarfism represents a genetically heterogeneous group of disorders which may be classified on the basis of: associated developmental anomalies or degenerative disease; deficiency of, or peripheral insensitivity to HGH; the number of deficient hormones; the associated metabolic disturbances; and the mode of inheritance. Hereditary forms of pituitary dwarfism include: congenital absence of the pituitary, panhypopituitary dwarfism (autosomal and X-linked recessive forms), isolated HGH deficiency (Types I and II), Laron type of dwarfism, and peripheral unresponsiveness to HGH (the African Pygmies).

Adrenocorticotropic Hormone↗

PubMed1981

Pituitary function in 8 patients with familial pituitary dwarfism.

Pituitary function was evaluated in four pairs of familial pituitary dwarfs (two sisters, 28 and 20 years old, two brothers 15 and 10 years old, one girl 19 years old and her brother 7 years old, and one girl 9 years old and her brother 3 6/12 years old), who all proved to have multiple pituitary hormone deficiency (MPHD), in order to find out whether a distinct intrafamilial or interfamilial pattern of deficiency existed. The response of FSH and LH to LRH, of TSH to TRH, of growth hormone (GH) to L-dopa, and of prolactin to sulpiride administration was studied. Basal levels of ACTH and cortisol (F) were also measured on two consecutive days. Basal FSH, LH and GH concentrations were below the sensitivity of the assay in all patients (except one who had measurable levels of LH) and showed no change after the appropriate stimulation. Basal TSH was normal in 6 patients and slightly increased in two members of the same family. Both these patients presented an exaggerated response to TRH. Three of the remainder patients showed a small and the other three no response to TRH. Basal prolactin values ranged within the normal limits, but prolactin was not increased during the sulpiride provocative rest. Mean basal ACTH was normal in 5 and low in 3 patients. Mean cortisol levels were normal in 5, near the lower normal limit in 2, and low in one patient. This patient had also a low ACTH concentration. It is concluded that the lack of a common pattern of hormone deficiency in all families indicates a variability in the expression of the hypothalamo-pituitary defect, which suggests that the familial MPHD dwarfism constitutes a genetically and pathogenetically heterogenous group.

Adolescent↗

PubMed1986

Pituitary dwarfism: CT evaluation of the pituitary gland.

The pituitary glands of 12 patients, aged 4-20 years, with pituitary dwarfism and of 15 age-matched control patients were evaluated with contrast-enhanced, high-resolution computed tomography (CT). In control patients, CT clearly demonstrated pituitary glands and stalks, 2.5-9.0 mm in height (average, 5.7 mm +/- 1.8). In the 12 patients with pituitary dwarfism, CT did not demonstrate the gland or stalk in four; CT faintly showed only the stalk in another four and showed a small gland (less than 2 mm in height) and a small to normal stalk in the remaining four. Eleven of the 12 patients had a birth history of breech presentation. Possible causes of pituitary dwarfism are discussed.

Adolescent↗

PubMed1975

Hypothalamic-pituitary functions in patients with idiopathic pituitary dwarfism.

To investigate hypothalamic-pituitary functions and the primary site of the lesion in idiopathic pituitary dwarfism, various pituitary function tests, especially the pituitary hormone responses to the hypophysiotropic hormones were studied in 23 patients with idiopathic pituitary dwarfism. A few cases showed slight responses of GH to GH stimulation tests. Gonadotropin deficiencies were most frequently noted among pituitary hormones. The basal levels and the responses of plasma LH and FSH to LH-RH test were diminished markedly in all of the cases except in 5 cases with isolated GH deficiency. Responses of LH and FSH to LH-RH improved markedly after a long term administration of LH-RH for a period of one month in 2 patients with gonadotropin deficiency. As to TSH axis, half of the cases accompanied hypothyroidism. However, the responses of TSH to TRH were normal in all of the cases regardless of the thyroid function. The basal levels and the responses of plasma cortisol and 11-deoxycortisol to the rapid metopirone test were also impaired in about half of the cases. Basal levels of plasma prolactin were normal in all of the cases and the responses of prolactin to TRH were normal in cases with normal thyroid function, but slightly delayed in cases with hypothyroidism. It is concluded from the above observations that the incidences of various pituitary hormone deficiencies were quite high in this disorder and hypophysiotropic hormone deficiencies may cause pituitary hormone deficiencies. Therefore, it is suggested that the primary site of the lesion in this disorder might be at the hypothalamus.

Adolescent↗

PubMed2000

Cloning of the canine gene encoding transcription factor Pit-1 and its exclusion as candidate gene in a canine model of pituitary dwarfism.

Combined pituitary hormone deficiency (CPHD) is an autosomal recessive inherited disease of German shepherd dogs characterized primarily by dwarfism. In mice and humans a similar genetic disorder has been described that results from an alteration in the gene encoding the transcription factor Pit-1. In this study we characterized the canine Pit-1 gene, determined the chromosomal localization of the Pit-1 gene, and screened dwarf German shepherd dogs for the presence of mutations in this gene. The full-length canine Pit-1 cDNA contained an open reading frame encoding 291 amino acids, 92 bp of 5'-untranslated region, and 1959 bp of 3'-untranslated region. The deduced amino acid sequence was highly homologous with Pit-1 of other mammalian species. Using a Pit-1 BAC clone as probe, the Pit-1 gene was mapped by FISH to canine Chromosome (Chr) 31. In dwarf German shepherd dogs a C to A transversion was detected, causing a Phe (TTC) to Leu (TTA) substitution at codon 81. This alteration was present neither in other canine breeds analyzed nor in other mammalian species. However, healthy German shepherd dogs were also homozygous for the mutant allele, indicating that it is not the primary disease-causing mutation. In addition, linkage analysis of polymorphic DNA markers flanking the Pit-1 gene, 41K19 and 52L05, revealed no co-segregation between the Pit-1 locus and the CPHD phenotype. These findings suggest that a gene other than Pit-1 is responsible for the pituitary anomaly in dwarf German shepherd dogs.

Amino Acid Sequence↗

PubMed2006

The leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in German shepherd dogs.

Pituitary dwarfism in German shepherd dogs is characterized by combined pituitary hormone deficiency (CPHD) and intrapituitary cyst formation. Activation of the leukemia inhibitory factor (LIF)-LIF receptor (LIFR) signal transduction pathway results in a similar phenotype in (transgenic) mice. We therefore assessed the role of the LIFR in the etiology of pituitary dwarfism in German shepherd dogs. A polymorphic microsatellite marker (UULIFR) was used to analyze the segregation of the LIFR gene in 22 German shepherd dogs from 4 pedigrees, each including one dwarf. There was no allelic association between UULIFR and the dwarfism phenotype. Based on our findings LIFR was excluded as a candidate gene for CPHD.

Animals↗

PubMed2002

Exclusion of the lim homeodomain gene LHX4 as a candidate gene for pituitary dwarfism in German shepherd dogs.

Pituitary dwarfism in the German shepherd dog is an autosomal recessive inherited abnormality. We tested the hypothesis that a variant of the LIM homeodomain gene LHX4 is responsible for the dwarfism phenotype. To this end, we isolated Bacterial Artificial Chromosome clones for the canine LHX4 gene. Southern blotting experiments showed that the LHX4 gene is a single copy gene in the canine genome. A complex CA-repeat was isolated from the BAC clones and was found to be polymorphic in German shepherd dogs. Genotyping 5 litters in which the dwarfism was segregating showed disconcordance between the inheritance of the dwarfism phenotype and the DNA marker. It is concluded that the LHX4 gene does not play a primary role in the pituitary dwarfism in the German shepherd dogs.

Animals↗

PubMed1995

Dynamic enhancement MRI of anterior lobe in pituitary dwarfism.

We examined 23 patients with pituitary dwarfism by dynamic MRI; with a repetition time of 150 or 50 ms. The time-enhancement difference curves of selected regions in the anterior lobes were plotted. Another 48 patients with no definite clinical pituitary disfunction were examined with the same technique. We found that the intensity of maximum enhancement in both groups was similar, but the time to achieve maximum enhancement was delayed in pituitary dwarfism with or without stalk transection; the time seemed longest with stalk transection. There was little difference in enhancement between patients with multiple hormone deficiency or isolated growth hormone deficiency. Dynamic MRI of the anterior lobes may be an important functional imaging study, and our results imply that poor perfusion is a useful finding in pituitary dwarfism, especially in patients without stalk transection and normal pituitary height.

Adolescent↗

PubMed1962