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At least 19 recordsLinked to original sources
PubMedDate not supplied

Genetic, endocrine, and viral aspects of AKR leukemogenesis.

In the AKR strain of mice a high incidence of spontaneous lymphoid leukemia develops before 12 months of age. Genetic, viral, and endocrine factors interact during development to produce the syndrome. Many of the deficiencies of AKR mice are associated with gene action in chromosome 17, at or near the major histocompatibility locus. It is suggested that low steroid levels and high thyroxin levels during an early period of development are an essential part of the syndrome. Specifically, induction of a polymerase enzyme and regulation of the extent of its action by hormones are postulated to favor appearance of C-type particles and accumulation of a population of undifferentiated lymphoid stem cells. Immunodeficiency and leukemic transformation result.

Animals↗
PubMed1975

Laparoscopy in endocrine and genetic disorders of the gonads.

The guideline of this work is to examine the diagnostic value of laparoscopy in some endocrine and genetic syndromes connected with gonadal pathology or abnormal sexual development in relation to the various hormonal and cytogenetic techniques usually utilized by the endocrinologist. After a brief introduction, Chapter 1 stresses our purpose to examine the advantages and limits of laparoscopy by investigating the most significant cases that came to our observation. Attention is drawn in Chapter 2 to the application of laparoscopy in a particular form of amenorrhea (uterus absence), admittedly of great endocrinologic interest. In particular, the results obtained by the application of this technique are reported in cases of uterus agenesis and the testicular feminization syndrome. The clinical, cytogenetic and hormonologic study of one case of uterus agenesis is reported together with that of four cases of the testicular feminization syndrome with the view to discussing the differential diagnosis between these two syndromes and the particular diagnostic problems connected with the latter. Our conclusion is that laparoscopy, although usually having only a confirmatory value in these syndromes, may assume in certain cases major diagnostic importance (the post-puberal testicular feminization syndrome without palpable gonads, the pre-puberal testicular feminization syndrome, rare cases of the testicular feminization syndrome associated with chromosome aberrations). Chapter 3 discusses the application of laparoscopy in female gonadal dysgenesis on the basis of three cases of Turner's syndrome with different diagnostic problems and one of pure gonadal dysgenesis. It is stressed that, although in the majority of cases of Turner's syndrome the laparoscopic findings are quite characteristic (streak gonads), in some cases the gonads may also present the aspect of hypoplastic ovaries. This finding is observed in two cases of Turner's syndrome with XO/XX mosaicism, of which one case with spontaneous menarche. The diagnostic value of laparoscopy is discussed in the cases of pure gonadal dysgenesis and in variants of Turner's syndrome chromatin-positive with X chromosome partial monosomy and chromatin-negative with a Y chromosome. Our conclusion is that laparoscopy assumes particular diagnostic value in cases of pure gonadal dysgenesis without chromosome aberrations, because chromosome aberrations may be absent in this syndrome, as well as in chromatin-negative variants with a Y chromosome because the gonads and gonaducts differentiation may be variable.

Adolescent↗
PubMed1975

Genetic and endocrine studies of the pregnancy-blocking pheromone of mice.

Secretion of the pregnancy-blocking pheromone was stimulated by injection of depo-testosterone cypionate into females and males of inbred strains of mice which do not normally secrete the pheromone. Testosterone treatment of SJL males altered pheromone secretion so that pregnancies were blocked when the stud male was of the same inbred strain; an event that does not normally occur. Injection of epiandrosterone, androstenedione, androsterone or testosterone significantly increased pheromone secretion in SJL females, but progesterone and dehydroepiandrosterone were ineffective. Kidney weights were significantly increased by administration of androgen metabolites and the possibility of the kidney being the site of pheromone synthesis is discussed. The preputial gland can be excluded as the site of pheromone synthesis since males which are hemizygous for the Tabby-J gene and have no preputial glands blocked pregnancies as effectively as their normal littermates. Preliminary results are also presented concerning the isolation of the pregnancy-blocking pheromone from urine. Urine was analysed by gas chromatography and a peak was observed whose concentration could be correlated with secretion of the pheromone, although the compound(s) has not been identified or tested for biological activity.

Androstenedione↗
PubMedDate not supplied

[Contribution of biology to nosology of depressive states. Neurochemical, endocrine and genetic factors (author's transl)].

Genetic factors have been evidenced in the etiology of manic-depressive syndromes through twins, morbidity risk studies, linkage studies with genetic markers such as color blindness and the Xga blood group, as well as through adoption studies. Most genetic studies indicate that there is a genetic and biological heterogeneity in manic-depressive illness. Among these manic-depressive syndromes, one group is consistent with a dominant X-linked transmission of the disease. From the neurochemical point of view, most investigators emphasize the importance of cerebral neurotransmitter substances such as catecholamines and indolamines in the pathogenesis of bipolar depressive states. According with this hypothesis, depression is associated with a functional deficit in brain monoamines while mania may be due to an hyperproduction of monoamines. These neuropharmacological studies are of importance because they also have neuroendocrine implications. Some pituitary hormones are secreted under the control of brain monoamines, and they are also implicated in the pathogenesis of depressive states.

Bipolar Disorder↗
PubMed1979

Endocrine factors in genetic improvement of milk production.

The endocrine role in lactation is undisputed, but attempts to correlate milk production with various endocrine products have had limited success. Recent work has suggested that placental hormones, in particular placental lactogen, may be an important regulator of lactation capacity. In addition to concentrations of hormones in blood, it is important to consider receptors in target tissue for the hormones. The concentration of receptors in a tissue may vary with genotype of the individual or under the influence of hormonal state. Other aspects of the target tissue's system for response also must be considered.

Animals↗
PubMed1978

Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction. III. Genetic studies.

A syndrome of progressive cone dystrophy, endocrine dysfunctions and degenerative liver diseases has been observed in seven patients, six of whom belonged to one extensive kindred. Genetic analyses revealed a segregation ratio indicating autosomal recessive inheritance of the syndrome, and the kindred from which six of the seven patients originated was heavily inbred. Thus, the results of the segregation analyses as well as of the inbreeding analyses provide evidence that this previously unrecognized disorder is inherited as an autosomal recessive trait. Genetic marker analyses were conducted with respect to 22 marker systems, and linkage information was obtained with respect to 15 of them. No strong suggestion of linkage emerged from the analyses, but very close linkage could be excluded for several of genetic marker systems. Pedigree analysis was helpful in establishing the spectrum of clinical manifestations belonging to the syndrome proper. The data presently available suggest that elevated levels of creatine phosphokinase, which were found in all patients, may be useful in tracing heterozygotes for this disorder. This possibility will be further examined.

Abnormalities, Multiple↗
PubMed2026

Clinical and endocrine correlates of genetic etiologies in severe hypospadias: Study from 34 patients.

OBJECTIVE: Hypospadias is a prevalent congenital anomaly (0.3%-1.0%); however, severe hypospadias (defined as proximal cases with the meatus at the penoscrotal junction, scrotum, or perineum) is a rare and clinically challenging entity with a multifactorial etiology. This study aimed to characterize the interrelationships among the clinical, endocrine, and genetic profiles in children with severe hypospadias. MATERIALS AND METHODS: We conducted a comprehensive analysis of 34 male patients with severe hypospadias. Preoperative hormone levels were measured using two methods: chemiluminescent immunoassay for luteinizing hormone and follicle-stimulating hormone, and liquid chromatography-tandem mass spectrometry for testosterone (T), dihydrotestosterone (DHT), dehydroepiandrosterone (DHEA), 17α-hydroxyprogesterone (17α-OHP), and other steroids. Genetic analysis was conducted via whole exome sequencing. RESULTS: The diagnostic yield of clinically relevant genetic variants (including pathogenic and likely pathogenic, and variants of uncertain significance) in our cohort was 41.2% (14/34) of patients. Patients carrying these variants exhibited a more complex phenotypic profile compared to non-carriers, including a significantly higher rate of patients with ≥3 associated malformations and a greater prevalence of cryptorchidism. Furthermore, the group with clinically relevant variants showed selective elevations in adrenal-derived precursors, specifically 17α-OHP and DHEA. Correlation analysis revealed significant positive associations of both 17α-OHP levels and the T/DHT ratio with the number of associated malformations. CONCLUSION: This study reveals significant genetic heterogeneity in patients with severe hypospadias. Those carrying genetic variants was associated with more severe clinical phenotypes, while certain endocrine variations, including the elevation of adrenal-derived hormones, were also observed in this cohort.

Humans↗
PubMed1976

Adjuvant disease induced by mycobacteria, determinants of arthritogenicity.

Genetic, endocrine and immunological factors are probably involved in adjuvant polyarthritis. The nature of the vehicle and of the mycobacterial components administered also has a major influence. It was originally assumed that arthritogenicity and adjuvanticity of mycobacterial fractions such as wax D were intimately related. Our previous findings showed that the water soluble adjuvant (WSA) of M.smegmatis which could substitute for mycobacterial cells in Freund's complete adjuvant and induce delayed hypersensitivity was not arthritogenic in the Wistar rat. We have since observed that auto-immune diseases could be elicited by WSA. Therefore experiments were repeated using the very susceptible Lewis strain. The activity of cord factor and of various mycobacterial preparations suspended in mineral or in peanut oil was also evaluated in mice and in normal or hypophysectomized rats. Our present findings confirm the absence of arthritogenicity of WSA in the Lewis strain. They also indicate that cord factor with WSA does not suffice to induce a generalized adjuvant disease, but that a mycobacterial component which could be susceptible to lysozyme treatment is required also. However, the local inflammation of the injected limb was produced by a preparation of cord factor administered in mineral or even in peanut oil. This was observed in normal or hypophysectomized rats and in Swiss mice which were not susceptible to the generalized disease.

Animals↗
PubMed2026

Crinecerfont: emerging role in the management of congenital adrenal hyperplasia.

INTRODUCTION: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare genetic endocrine disorder characterized by impaired cortisol synthesis, excessive adrenal androgen production, and elevated adrenocorticotropic hormone (ACTH) concentrations. The current standard of care involves supraphysiologic doses of glucocorticoids to suppress ACTH and manage androgen excess, often leading to long-term complications. AREAS COVERED: A literature search of PubMed was conducted. This review critically examines the pharmacology, clinical efficacy, and potential role of crinecerfont in redefining CAH management. EXPERT OPINION: Crinecerfont, a selective corticotropin-releasing factor type 1 receptor (CRF1) antagonist, offers a novel therapeutic approach by targeting ACTH secretion at its hypothalamic origin. Recent Phase 2 and Phase 3 trials have demonstrated promising efficacy and safety across adult, adolescent, and pediatric populations. Crinecerfont may represent a promising adjunctive therapy in CAH management, addressing both biochemical control as well as quality of life and potentially long-term outcomes.

Humans↗
PubMed1979

Plasma free tryptophan, brain serotonin, and an endocrine profile of the genetically obese hyperglycemic mouse at 4--5 months of age.

Genetically obese hyperglycemic mice (ob/ob) were compared with their nonlittermate lean controls at 4-5 months of age with regard to brain serotonin, pituitary ACTH content, and circulating levels of glucose, glucagon, insulin, TSH, T3, T4, total tryptophan and free tryptophan. Brain serotonin pituitary ACTH content, and plasma insulin, glucose, total tryptophan, and free tryptophan were all significantly higher in obese mice than in the controls. TSH, T3, and T4 were not significantly different in obese mice vs. controls, suggesting that the obese mouse is euthyroid. Fasting improved but failed to normalize the glucose and insulin levels or insulin to glucagon ratios. Since serotonin is an important neurotransmitter with regard to hypothalamic-pituitary function and since its levels in the brain are dependent on the availability of tryptophan, the findings of elevated levels of free tryptophan in the plasma and serotonin in the brain of the obese hyperglycemic mouse may help to explain some of the previously observed abnormalities of pituitary hormone secretion in these animals.

Adrenocorticotropic Hormone↗
PubMed1976

From phrenology to psychosurgery and back again: biological studies of criminality.

Characteristics of scientific research--careful definition of the problem, random sample selection, relevant control groups, careful measurement techniques, and caution in drawing conclusions from the data--are employed to evaluate the argument for constitutional, genetic, mental, endocrinal, and neurological theories of crime causation. A historical continuity in assumptions and methodological flaws is revealed between contemporary studies of the biological correlates of crime and their earlier counterparts. Social and political ramifications of biomedical research are considered.

Anthropology, Physical↗
PubMedDate not supplied

Cancer of endocrine glands and target organs: genetic considerations.

The pathogenesis of cancer in general is influenced by many factors, genetic and environmental. Epidemiological studies demonstrate familial aggregation of cancer in a significant proportion of cases. Many of these familial cancer syndromes contain endocrine hormone-related components. The etiology of endocrine-related cancers is complex, as is that of other cancers. Tumors of endocrine glands and target organs are subject to the same influences as other cancers; an additional variable is that of hormone-responsiveness.

Adrenal Gland Neoplasms↗
PubMed1975

[Evaluating function and disorders of taste].

In a first anatomical section the peripheral gustatory pathways, their central connections, nuclei and cortical projections are discussed. It is evident, that the gustatory fibres from the posterior part of the tongue run in the IX nerve and those from the soft palate reach the medulla oblongata via the petrosal and facial nerve. For the anterior part of the tongue there obviously exists only one gustatory pathway via the chorda tympani-facial nerve. About the further central pathways of taste fibres is much less known. In a second part the methods of taste testing with different taste solutions and the electrogustometry are described. Their practical use and the pitfalls of testing are considered. The disorders of the taste sense compose a third part. Genetic and endocrine abnormalities as well as the side effects of drugs and radiotherapy and the destruction of taste nerves may lead to gustatory deviations. The possibility of central gustatory disorders, especially the combined loss of taste and smell as a result of trauma are mentioned. A chapter dealing with the therapy of taste disorders and a short outlook on the genetic aspects of this oral sense complete this review.

Afferent Pathways↗
PubMed1977

Comparative epidemiology of carcinoid and oat-cell tumors of the lung.

Oat-cell carcinoma and bronchial carcinoid share histologic features with the Kultschitzky cell, and this argues for a common origin from the Kultschitzky cell for these tumors. In this view, the carcinoid represents the less malignant form and the oat-cell carcinoma the highly malignant adenocarcinoma of the colon, the epidemiologies of the benign and malignant forms of tumor arising from the same precursor are similar. However, the epidemiology of carcinoid tumor and that of oat-cell carcinoma are different. Although the ectopic production of hormones links the two kinds of tumor, it is also seen in other histologic types of lung carcinoma. Lung carcinoids occur in the genetic disorder of multiple endocrine adenomatosis, suggesting a genetic etiology for at least some carcinoids. This contrasts with the exogenous etiologic agents of cigarette smoking, occupational exposure, and urban domicile for oat-cell carcinoma. All these strong differences between lung carcinoid and oat-cell carcinoma indicate a markedly different process of carcinogenesis, which casts doubt on the hypothesis of a common cell precursor.

Age Factors↗