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PubMed1980

[Pituitary dwarfism in a German shepherd dog (author's transl)].

Pituitary dwarfism has been described in more than 20 German shepherd dogs. Some cases probably were caused by persistent cysts of Rathke's pouch. This is the first histopathological, immunohistochemical and endocrinological study. A 13-month-old, 7-kg, dwarf purebred German shepherd bitch with alopecia and hyperpigmentation was admitted to the clinic for euthanasia. Retardation of growth was noticed when the dog was about two months old. No littermates had this condition. Two subsequent breedings from the same parents produced normal offspring. The clinical parameters in our dog (hematology, function of liver and kidney) were normal. Grossly, the pituitary gland had small and large multiple cysts, which light microscopy showed to be exclusively within the adenohypophysis. The latter had pressure atrophy, and immunohistochemically showed only remnants of the hormone-producing cells (growth hormone-GH; prolactin-PRL; thyrotropin-TSH; luteinizing hormone-LH; adrenocorticotrophin-ACTH/MSH). The thyroid was relatively small, and histologically showed focally resting follicles without lumen. Endocrinological studies showed a surprisingly high value for serum growth hormone (cGH 4.1 ng/ml; normal range 1.8-3.8 ng/ml as determined by a specific homologous radioimmunoassay) and a pathologically low serum somatomedin (SM 0.132; normal value more than 0.50 unit/ml, determined by 35S incorporation in piglet rib cartilage). Hypothyroidism was verified by a low T4 binding value (T4 0.9 micrograms/100 ml; normal 4.1 +/- 0.9 micrograms/100 ml) and a low thyroid binding index (TBI 0.54; normal 0.61 +/- 0.05). While ACTH was lowered (ACTH less than 10 pg/ml; normal 74-210 pg/ml), cortisol was normal (0.81 micrograms/100 ml; normal 0.5-2.5 micrograms/100 ml). Pituitary dwarfism in the 13-month-old bitch can be ascribed to the persistence of one end of the ductus craniopharyngeus, Rathke's pouch. Pressure atrophy of the adenohypophysis led to the loss of most of the hormone-producing tissue. An increase in growth hormone with lowered somatomedin raises questions. We have no conclusive explanation for this, due to the present lack of knowledge of how growth is regulated. High growth hormone and low somatomedin values are found in Laron's syndrome in infants. The literature indicates that pituitary dwarfism in German shepherd dogs may be a hereditary autosomal recessive trait.

Adrenocorticotropic Hormone↗
PubMed1976

Receptor-active growth hormone in Laron dwarfism.

The hepatic radioreceptor assay for hGH has been applied to the detection of hGH in the sera of patients with high growth hormone dwarfism (Laron dwarfism). Substantial quantities of receptor-active hGH were found in the sera of all 7 patients studied. In one patient, arginine infusion elicited a prompt increase in both immunoactive and receptor-active hGH. These observations suggest that circulating hGH in Laron dwarfism is biologically active and support the concept that the disease may be caused by a generalized defect in hGH receptors.

Arginine↗
PubMed1987

Absence of the plasma growth hormone-binding protein in Laron-type dwarfism.

We recently described a specific, high affinity binding protein (BP) for growth hormone (GH) in normal human plasma. Little is known about the source, regulation and biological role of this BP. Because its specificity is similar to that of the GH receptor, we considered the possibility that it represented a circulating receptor subunit or fragment. Laron-type dwarfism is a rare disorder characterized by severe growth failure, resistance to GH, and GH receptor deficiency. To probe the relationship between the receptor and the circulating binding protein, we measured the binding of GH to plasma from a child with Laron-type dwarfism and compared it with that in plasma of normal children and adults. Normal plasma samples were supplemented with unlabeled GH to the endogenous GH level in the plasma of the Laron patient to yield comparable saturation of the BP. After incubation of plasma with radiolabeled GH, bound GH was separated from free GH by gel filtration on Sephadex G-100. There was no detectable binding (less than 1.5%) of GH in the plasma of the Laron-type dwarf, whereas in normal children the bound GH fraction averaged 24.0 +/- 6.1% (mean +/- SD). Thus, the GH-BP is either absent or functionally abnormal in Laron-type dwarfism. This finding suggests that the circulating GH-BP is related to and/or may be derived from the GH receptor. Alternatively, it is possible that the BP plays an as yet poorly understood pivotal role in the promotion of somatic growth.

Carrier Proteins↗
PubMed1991

[GH-secretion capacity in Turner syndrome and its relations to clinical characteristics and effect of GH treatment--a comparison with pituitary dwarfism. The Committee for hGH treatment in Turner syndrome].

The relations of GH secretion capacity by stimulation tests to clinical characteristics and the effect of GH treatment were studied in 151 girls with Turner syndrome and were compared with those in 128 patients with pituitary dwarfism. GH secretion capacity expressed by mean peak GH was not associated with clinical characteristics related to growth such as height SDS and growth velocity SDS in Turner syndrome and was influenced by % overweight, whereas it was associated with growth-related clinical characteristics in pituitary dwarfism. Because GH secretion capacity does not affect growth in Turner syndrome, it is not reasonable to diagnose low peak GH in stimulation tests as GH deficiency in Turner syndrome. GH treatment increased the growth velocity and growth velocity SD score in Turner syndrome in a dose-dependent manner. In pituitary dwarfism, the effect of GH treatment expressed by the increase in growth velocity SD score had a negative correlation with growth velocity SD score before GH treatment and GH secretion capacity, which indicated that GH treatment was replacement therapy. In Turner syndrome, the effect of GH treatment had a negative correlation with growth velocity and growth velocity SD score before GH treatment, but had no relation to GH secretion capacity, which suggested that GH treatment did not provide replacement GH but had another pharmacological effect.

Adolescent↗
PubMed1984

Long term effects of human growth hormone on 1,959 patients with pituitary dwarfism throughout Japan.

The results of 6 months to 8 years of treatment of pituitary dwarfism in 1,959 patients in Japan were summarized. The data were based on the reports of the physicians treating the patients. Among the patients, 1,720 cases suffered from idiopathic pituitary dwarfism, 227 cases from secondary pituitary dwarfism, and 12 cases from unknown causes. Their initial age ranged from 9 months to 36 years old and their initial bone age ranged from 3 months to 15 years old. In most cases, a definite effect was observed. The effect was most remarkable during the initial 6 months and then declined gradually up to the fourth year. Males responded better than females. In younger and more immature patients, the effect was more remarkable. There were almost no side effects other than a few cases of impairment of capital femoral epiphysis.

Adolescent↗
PubMed1988

Secretion of growth hormone-releasing hormone in patients with idiopathic pituitary dwarfism and acromegaly.

The plasma levels of immunoreactive-GHRH in patients with idiopathic pituitary dwarfism and acromegaly were studied in the basal state and during various tests by a sensitive and specific RIA. The fasting plasma GHRH level in 22 patients with idiopathic pituitary dwarfism was 6.3 +/- 2.3 ng/l (mean +/- SD), which was significantly lower than that in normal children (9.8 +/- 2.8 ng/l, N = 21), and eight of them had undetectable concentrations (less than 4.0 ng/l). Little or no response of plasma GHRH to oral administration of L-dopa was observed in 7 of 10 pituitary dwarfs, and 3 of the 7 patients showed a response of plasma GH to iv administration of GHRH (1 microgram/kg). These findings suggest that one of the causes of idiopathic pituitary dwarfism is insufficient GHRH release from the hypothalamus. The fasting plasma GHRH level in 14 patients with acromegaly and one patient with gigantism was 8.0 +/- 3.9 ng/l, which was slightly lower than that in normal adults (10.4 +/- 4.1 ng/l, N = 72). One acromegalic patient with multiple endocrine neoplasia type I had a high level of plasma GHRH (270 ng/l) with no change in response to L-dopa and TRH test. In 3 untreated patients with acromegaly L-dopa did not induce any response of plasma GHRH in spite of inconsistent GH release, and in 4 patients with acromegaly, TRH evoked no response of plasma GHRH in spite of a marked GH release, suggesting that the GH responses are not mediated by hypothalamic GHRH.(ABSTRACT TRUNCATED AT 250 WORDS)

Acromegaly↗
PubMed1989

Serum GH binding protein activities identifies the heterozygous carriers for Laron type dwarfism.

Measurement of GH-binding protein activity and IGF-I was carried out in the sera of 13 patients with Laron type dwarfism, a syndrome caused by a lack of GH receptors which leads to impairment of IGF-I generation, and those of 16 of their close relatives. GH binding protein activity was measured by incubating 125I-hGH with 100 microliters serum in the presence and in the absence of excess unlabelled hGH, followed by separation of specifically bound 125I-hGH binding protein complexes from free 125I-hGH by gel filtration. The results are expressed as percent specific binding relative to an adult reference serum. IGF-I was determined by RIA after acid extraction on octadecylsilane silica columns. All Laron type dwarfism patients had no, or only negligible GH binding protein activity, which supports the evidence that serum GH binding protein corresponds to the extracellular domain of the membranal GH receptor. Eight of the 16 relatives had serum GH binding protein activity more than 2 SD below the mean for age, a finding considered to denote heterozygocity for their molecular defect disease. The significant correlation (p less than 0.001) between serum GH binding protein activity and IGF-I levels supports this conclusion. The ability to define heterozygotes of Laron type dwarfism will be helpful in genetic counselling.

Adolescent↗
PubMed1993

Expression of mRNA coding for pituitary hormones and pituitary-specific transcription factor in the pituitary gland of the rdw rat with hereditary dwarfism.

The rdw rat (gene symbol: rdw) with hereditary dwarfism has been shown immunohistochemically to have subnormal numbers not only of GH- but also of prolactin- and thyrotrophin-positive cells. To characterize the dwarfism of this strain, the expression of pituitary hormone mRNAs was examined by Northern hybridization. The pituitary gland in the rdw rat expressed 30-100 times less GH and prolactin mRNAs than normal controls, whereas mRNAs for pro-opiomelanocortin and the alpha subunit of rat glycoprotein hormone revealed a significant increase. There was a non-significant difference in rat LH-beta subunit and FSH-beta subunit between normal and rdw rats. The suppressed expression of a pituitary-specific transcription factor, Pit-1, is considered to cause hereditary dwarfism in mouse strains Snell and Jackson, whose phenotypes resemble those of the rdw rat. In this study, however, no difference in mRNA expression for Pit-1 was found between rdw rats and controls. This work indicates that the rdw rat may not have the same genotype as the phenotypically similar dwarf mice, Snell, Jackson and Ames.

Animals↗
PubMed1975

[Reactivity of peripheral blood lymphocytes in children with pituitary dwarfism treated with human growth hormone (author's transl)].

The study has aimed at investigating the blastic transformation of peripheral blood lymphocytes in patients with pituitary dwarfism before, during and after the treatment with human growth hormone. The reactivity of lymphocytes in vitro was studied in cultures stimulated with phytohemagglutinin-M of the Difco Company (PHA), in cultures stimulated with human growth hormone (HGH), and in cultures non-stimulated in vitro. The investigations were carried out in 34 patients with pituitary dwarfism at the age of 7 to 19 years. The control group was made up of 16 healthy children, 8 to 15 years old who had never been administered HGH. The patients were divided into groups according to the circumstance whether it was the first or the subsequent contact with HGH, and according to the periods at which the blood samples were collected during after therapy. It was found that the capability of lymphocytes to blastic transformation after stimulation with a specific stimulus (HGH) in patients with pituitary dwarfism in comparison with the reaction of healthy children is reduced (Fig. 2). The ability of the transformation of lymphocytes in this case shows selectivity towards the stimulus because the inhibiting of the response was noted only after the stimulation with HGH, but not after stimulation with PHA. During the treatment with HGH, allergization of the body appears; this is evidenced by the increase in the percentage of blastic cells in autotransformation (Fig. 1).

Adolescent↗
PubMedDate not supplied

Diastrophic dwarfism.

Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate. Radiographic findings include flaring of the metaphyses of tubular bones and flattened epiphyses which appear late. The major orthopedic problem in diastrophic dwarfism is correction of the recalcitrant clubfoot deformity; cervical spine subluxation or kyphoscoliosis may also require intervention. This disorder is inherited as an autosomal recessive condition.

Bone and Bones↗
PubMed1990

Assessment of the role of manganese in congenital joint laxity and dwarfism in calves.

Pregnant beef cows were winter-fed (November 15 to calving) hay (24 cows), red clover silage (21 cows) or grass silage (52 cows). Blood samples were taken from each cow in December and February. A condition of congenital joint laxity and dwarfism was observed in 38% and 28% of calves born to cows fed red clover silage and grass silage, respectively. None of the calves born to hay-fed cows were affected by the condition. The congenital joint laxity and dwarfism was associated with a lower serum manganese concentration in silage-fed cows than in hay-fed cows. However, manganese concentrations were similar in red clover silage, grass silage and in hay. A lower bioavailability of manganese in silages other than in hay, resulting in an apparent manganese deficiency in silage-fed cows, is suggested as a possible factor contributing to the etiology of congenital joint laxity and dwarfism in calves.

Animal Feed↗
PubMed1981

Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix.

This paper describes a new autosomal incomplete dominant dwarfism, disproportionate micromelia, which has been characterized genetically and phenotypically, and the cartilage of homozygotes, and heterozygotes has been examined by histochemical, immunofluorescence and biochemical methods. Homozygotes, which die at birth, are disproportionately short and have cleft palates. The heterozygotes appear normal at birth but beginning at 1 week of age dwarfism is apparent and increases during growth. Histochemical and biochemical analyses of the cartilage rudiments of homozygotes at day 18 of gestation demonstrate that the cartilage growth plate is disorganized and the matrix components, collagen and proteoglycan, are altered. Total collagen synthesis is reduced by approximately 30% and the amount of type II collagen is greatly reduced. By immunofluorescence staining with collagen antibodies, it appears that type II collagen is located primarily near the cell surface of chondrocytes but is poorly distributed throughout the remainder of the matrix. The amount of proteoglycan in the cartilage matrix is reduced by approximately 70% as determined by chemical analysis of hexosamines and by [35S]sulfate incorporation. Although the proteoglycans synthesized by the mutant are normal in size and in glycosaminoglycan composition, they were more easily extractable from the matrix than were normal cartilage proteoglycans. Heterozygotes had reduced cartilage matrix proteoglycan by histochemical methods, but the organization of the epiphyseal cartilage was not abnormal. These data suggest that a reduced or abnormal cartilage matrix is the cause of the dwarfism.

Animals↗
PubMed1995

Osteodysplastic primordial dwarfism: a case with features of type II.

We describe a 22-month-old Japanese girl with severe microcephaly with a prominent nose and a receding chin, developmental delay, marked intrauterine and postnatal dwarfism with limb shortening and brachydactyly, and distinctive radiological changes of the skeleton. The radiological findings include hypoplasia of the short tubular bones, multiple pseudoepiphyses in the bases of the metacarpals, coxa valga, a wide pelvis with iliac flaring, thoracolumbar scoliosis, and disharmonious ossification delay. The clinical and radiological features are somewhat different from those of previously reported cases with osteodysplastic primordial dwarfism. The clinical and radiological manifestations of osteodysplastic primordial dwarfism are reviewed and compared with those in our patient.

Dwarfism↗
PubMed1987

Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.

Microcephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird-headed dwarfism (Seckel-like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel-like syndrome of bird-headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird-headed dwarfism has probably autosomal recessive inheritance. Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration.

Abnormalities, Multiple↗
PubMed1981

New forms of neonatal death dwarfism. Report of 3 cases.

The term Lethal Neonatal Dwarfism (Death Dwarfism) denotes bone dysplasias which always have a fatal outcome. Three different cases of "new" forms of death dwarfism are reported. A babygram should be a routine examination in all the cases of stillborn babies or those who die soon after the birth. If then the diagnosis cannot be established microscopic investigations of the growth cartilage should be performed.

Achondroplasia↗
PubMed1995

Infant with thanatophoric dwarfism in triplet pregnancy.

The case of a Japanese female infant with thanatophoric dwarfism, a triplet, is reported. The diagnosis was made at 18 weeks' gestation. Triplets were delivered at 30 weeks' gestation by cesarean section. Two infants, both males, were normal; the female with dwarfism died of respiratory distress 34 min after delivery. This is the first known case of one fraternal triplet being affected by thanatophoric dwarfism.

Fatal Outcome↗
PubMed1986

[Thanatophoric dwarfism].

The brothers and sisters described above show all the important exterior and radiological signs of thanatophoric dwarfism type I. The other described complications of pregnancy such as hydramnios, premature birth or abortion did not occur. According to present day publications a homogeneous heredity have not been noticed, so the risk of a repetition after having a child with thanatophoric dwarfism is given as 1:50 to 1:4 for healthy parents. Ultrasonic controls frequently repeated at short intervals, especially with hydramnios or an atypical development of the skeleton combined with a radiograph and - in case of doubt-fetography enables a diagnosis of thanatophoric dwarfism to be made from about the 18th week of gestation. With a positive diagnosis an interruption of pregnancy is indicated because of the absolutely lethal prognosis.

Bone and Bones↗
PubMed1988

Comparison of dental findings in patients with isolated growth hormone deficiency treated with human growth hormone (hGH) and in untreated patients with Laron-type dwarfism.

The effect of human growth hormone (hGH) on dental structures was investigated by comparing two groups of patients with hypopituitarism. One group of 19 patients with isolated growth hormone deficiency who received hGH replacement therapy was compared with a group of 13 patients with high immunoreactive growth hormone and IGF-I deficiency, Laron-type dwarfism, who could not benefit from hGH treatment. Plaster casts of the dentitions and panoramic radiographs were obtained from all patients and analyzed for dental age, arch length, arch circumference, and width of teeth. the main findings were that (1) hGH therapy did not accelerate dental age but enhanced bone age; (2) the mandible was significantly smaller in the untreated group but no significant difference was found between the groups in the maxilla; (3) third molars were missing in more than 90% of the patients with Laron-type dwarfism whereas hypodontia of other teeth was found in 30% of all the patients; and (4) crowding was less prevalent than expected and the mesiodistal width of the teeth seemed to be smaller.

Adolescent↗