Diagnosis and Management of Central Congenital Hypothyroidism
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000.
Peter Lauffer +4 more
doaj +1 more source
A novel KAL1 mutation is associated with combined pituitary hormone deficiency [PDF]
Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right microphthalmia, right renal aplasia and severe developmental delay. Our findings will provide additional evidence that KAL1 mutations are associated with hypopituitarism, in addition to ...
Takagi, Masaki +4 more
openaire +2 more sources
Effects of loperamide on the human hypothalamo-pituitary-adrenal axis in vivo and in vitro. [PDF]
Loperamide, an opiate agonist of high specificity for p-receptors, was recently reported to suppress ACTH and cortisol levels in normal subjects, but not in patients with proven ACTH-dependent Cushing’s disease. However, there is little information on
Pfeiffer, M. +4 more
core +2 more sources
Genetic Screening of Combined Pituitary Hormone Deficiency: Experience in 195 Patients [PDF]
Mutations in transcription factors result in combined pituitary hormone deficiency (CPHD).A genetic screening strategy, based on endocrine and neuroradiological phenotype according to published knowledge, was applied to establish the prevalence of gene defects in each category of patients and provide a useful framework for clinicians to determine the ...
Reynaud, Rachel +6 more
openaire +3 more sources
Identifying Patterns of Hospitalizations Among Childhood Cancer Survivors: A Population‐Based Study
ABSTRACT Background Childhood cancer survivors (CCSs) experience more hospitalizations than the general population. We aimed to identify distinct hospitalization patterns among Queensland CCSs and the associated characteristics. Methods Cases (aged ≤14 years) diagnosed between 1995 and 2019 while residents of Queensland were identified through the ...
Hai Pham +7 more
wiley +1 more source
Cancer‐associated mutations in endometriosis reframe a benign disease through molecular oncology
This review aims to comprehensively analyse cancer‐associated somatic mutations (CAMs) present in endometriotic lesions, emphasizing their biological roles, spatial distribution and implications for translational applications in medicine. By contextualizing a benign state within a genomic framework, this analysis seeks to establish its value as a ...
Clarissa Mujacic +15 more
wiley +1 more source
Characterization of Human Pituitary Adenomas in Cell Cultures by Light And Electron Microscopic Morphology And Immunolabeling [PDF]
The morphology and hormone production of pituitary adenoma cell cultures were compared in order to highlight their characteristic in vitro features. Cell suspensions were prepared from 494 surgical specimens.
Bácsy, Ernő +6 more
core +1 more source
ABSTRACT Gonadotropin‐inhibitory hormone (GnIH, also known as RFamide‐related peptide‐3, RFRP‐3) is a hypothalamic neuropeptide that regulates vertebrate reproduction via its receptor GPR147. Although GnIH is known to mediate stress‐induced reproductive suppression, its role in broader stress responses remains unclear.
Jiani Zhang +18 more
wiley +1 more source
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? [PDF]
SummaryThe past 12 years have witnessed an explosion in our understanding of the development of the anterior pituitary gland, and of mechanisms that underlie the diagnosis of growth hormone deficiency (GHD) and combined pituitary hormone deficiency (CPHD).
openaire +2 more sources
A secretagogin locus of the mammalian hypothalamus controls stress hormone release [PDF]
This work was supported by the Swedish Research Council (T.Ha., T.Hö.), Hjärnfonden (T.Ha.), the Petrus and Augusta Hedlunds Foundation (T.Ha., T.Hö.), the Novo Nordisk Foundation (T.Ha., T.Hö.), Karolinska Institutet (T.Hö.), the Medical University of ...
Marc Landry +58 more
core +1 more source

