Abstract:
:Background: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin, and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, more than 25 mutations have been identified in POU1F1. Case Description: We describe a 17-year-old male who presented to our Pediatric Endocrinology clinic with extreme short stature (height 81.7 cm, -9.3 SD), cognitive impairment, deaf-mutism, and neurological disabilities. L-thyroxine supplemental therapy, which had been initiated at the age of 6 months but ceased due to non-compliance, was reintroduced at presentation. GH therapy was initiated at 19 years of age, resulting in 42 cm linear growth, to a final height of 124 cm. Sequencing of POU1F1 revealed a previously described homozygous insertion mutation-c.580_581insT, p (Thr194Ilefs*7)-in exon 4 causing a frameshift that introduces a stop codon 7 amino acids downstream, leading to a severely truncated protein lacking the homeodomain. Conclusion: This case report sheds light on the natural history of untreated patients with POU1F1 mutations and raises awareness for early diagnosis and adequate treatment of central congenital hypothyroidism and GH deficiency.
journal_name
Front Endocrinol (Lausanne)journal_title
Frontiers in endocrinologyauthors
Majdoub H,Amselem S,Legendre M,Rath S,Bercovich D,Tenenbaum-Rakover Ydoi
10.3389/fendo.2019.00381subject
Has Abstractpub_date
2019-06-27 00:00:00pages
381issn
1664-2392journal_volume
10pub_type
abstract::Background: Obesity and maternal age are the two most important factors independently affecting the risk of gestational diabetes mellitus (GDM). However, the age differences in the association between obesity and GDM remain unclear. The objectives of this cohort study included: (1) to determine the current incidence o...
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pub_type: 杂志文章
doi:10.3389/fendo.2020.00636
更新日期:2020-09-11 00:00:00
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doi:10.3389/fendo.2020.592495
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abstract:Objective:Both vitamin D and K2 are involved in a number of metabolic processes, including bone metabolism; however, associations between the vitamins are not fully understood. The aim of the study was to evaluate serum concentrations of 25-hydroxyvitamin D [25(OH)D] in adult patients receiving long-term acenocoumarol ...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2018.00226
更新日期:2018-05-04 00:00:00
abstract::Vitiligo represents the most common cause of acquired skin, hair, and oral depigmentation, affecting 0.5-1% of the population worldwide. It is clinically characterized by the appearance of disfiguring circumscribed skin macules following melanocyte destruction by autoreactive cytotoxic T lymphocytes. Patients affected...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2017.00290
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abstract::Regenerative medicine is a multidisciplinary field that aims to determine different factors and develop various methods to regenerate impaired tissues, organs, and cells in the disease and impairment conditions. When treatment procedures are specified according to the individual's information, the leading role of pers...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2020.00396
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abstract::SIRT7 is one of seven mammalian sirtuins that functions as an NAD+-dependent histone/protein deacetylase. SIRT7 is the least well-known member of the sirtuin family, but recent efforts have identified its involvement in various cellular processes, such as ribosome biogenesis, gene expression, cellular metabolism and c...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2018.00652
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abstract::Dopamine (DA) has a vital role in the central nervous system and also modulates lipid and glucose metabolism. The present study aimed to investigate the effect of dopamine on insulin secretion and the underlying mechanisms in rat pancreatic β-cells. Data from the radioimmunoassay indicated that dopamine inhibited insu...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2020.00152
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abstract::The world-wide obesity epidemic constitutes a severe threat to human health and wellbeing and poses a major challenge to health-care systems. Current therapeutic approaches, relying mainly on reduced energy intake and/or increased exercise energy expenditure, are generally of limited effectiveness. Previously believed...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2011.00086
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abstract::RFamide-related peptide-3 (RFRP-3) [mammalian ortholog to gonadotropin-inhibiting hormone (GnIH)] potently inhibits gonadotropin secretion in mammals. Studies of RFRP-3 immunoreactivity and Rfrp expression (the gene encoding RFRP-3) in mammalian brains have uncovered several possible pathways regulating RFRP-3 neurons...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2015.00150
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abstract::Classically, the modulation of brain function and behavior by steroid hormones was linked exclusively to secretion by peripheral endocrine glands. Subsequently, steroid actions within the brain were shown dependent upon either synthesis and secretion by peripheral organs or by production within the CNS itself using pe...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2011.00028
更新日期:2011-09-29 00:00:00
abstract:Background:Since hypothyroidism is a fairly common dysfunction, levothyroxine (L-T4) is one of the most prescribed medications. Approximately 70% of the administered L-T4 dose is absorbed. The absorption process takes place in the small intestine. Some disorders of the digestive system and some medicines, supplements, ...
journal_title:Frontiers in endocrinology
pub_type:
doi:10.3389/fendo.2018.00150
更新日期:2018-04-18 00:00:00
abstract::In some organisms and cells, oxygen availability influences oxygen consumption. In this review, we examine this phenomenon of hypoxic hypometabolism (HH), discussing its features, mechanisms, and implications. Small mammals and other vertebrate species exhibit "oxyconformism," a downregulation of metabolic rate and bo...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2018.00668
更新日期:2018-11-13 00:00:00
abstract::The p53-related gene p63 is required for epithelial cell establishment and its expression is often altered in tumor cells. Great strides have been made in understanding the pathways and mechanisms that regulate p63 levels, such as the Wnt, Hedgehog, Notch, and EGFR pathways. We discuss here the multiple signaling path...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2015.00051
更新日期:2015-04-28 00:00:00
abstract::The incidence of type 2 diabetes significantly increases with age. The relevance of this association is dramatically magnified by the concomitant global aging of the population, but the underlying mechanisms remain to be fully elucidated. Here, some recent advances in this field are reviewed at the level of both the p...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2014.00138
更新日期:2014-09-03 00:00:00
abstract::Older women with type 2 diabetes mellitus (DM) have higher bone mineral density (BMD) but also have higher rates of fracture compared to those without DM. Limited evidence suggests that DM may also be associated with more rapid bone loss. To determine if bone loss rates differ by DM status in older women, we analyzed ...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2013.00062
更新日期:2013-05-30 00:00:00
abstract::Oxidative stress induced by free fatty acid overload in pancreatic β-cells is a potential contributory factor to dysfunction of insulin secretion and apoptotic cell death. Perilipin 5 (Plin5) has been reported to ameliorate oxidative stress-mediated damage in non-insulin-secreting tissues. We tested the hypothesis tha...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2020.00166
更新日期:2020-03-31 00:00:00
abstract::Obesity is a prominent metabolic disease that predisposes individuals to multiple comorbidities, including type 2 diabetes mellitus, cardiovascular diseases, and cancer. Elevated circulating levels of fatty acids contribute to the development of obesity, in part, by targeting the hypothalamus. Palmitate, the most abun...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2020.00351
更新日期:2020-06-12 00:00:00
abstract::Insulin-like growth factor-binding proteins (IGFBPs) are multifunctional proteins that possess IGF-dependent and -independent actions. Recent studies suggest that its IGF-independent action appeared early and that the IGF-binding function may have been acquired later in evolution. The timing of the emergence of IGF-de...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2016.00174
更新日期:2017-01-18 00:00:00
abstract:Objective:Two missense mutations in KCNQ1, an imprinted gene that encodes the alpha subunit of the voltage-gated potassium channel Kv7.1, cause autosomal dominant growth hormone deficiency and maternally inherited gingival fibromatosis. We evaluated endocrine features, birth size, and subsequent somatic growth of patie...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2018.00194
更新日期:2018-04-24 00:00:00
abstract::Several studies have shown that a woman's vaginal or axillary odors convey information on her attractivity. Yet, whether such scents induce psychoneuroendocrinological changes in perceivers is still controversial. We studied if smelling axillary and vulvar odors collected in the periovulatory and late luteal phases of...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2013.00159
更新日期:2013-10-28 00:00:00
abstract::Physiological concentrations of the green tea extract epigallocatechin-3-gallate (EGCG) caused growth inhibition in estrogen receptor α (ERα)-positive MCF7 cells that was associated with down-regulation of the ERα and reduced insulin-like growth factor binding protein-2 abundance and increased protein abundance of the...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2014.00061
更新日期:2014-05-07 00:00:00
abstract::The prolactin receptor (PRLR) is emerging as a therapeutic target in oncology. Knowledge-based drug design led to the development of a pure PRLR antagonist (Del1-9-G129R-hPRL) that was recently shown to prevent PRL-induced mouse prostate tumorogenesis. In humans, the first gain-of-function mutation of the PRLR (PRLR(I...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2011.00029
更新日期:2011-09-16 00:00:00
abstract::Although G protein-coupled receptor (GPCR) internalization has long been considered as a major aspect of the desensitization process that tunes ligand responsiveness, internalization is also involved in receptor resensitization and signaling, as well as the ligand scavenging function of some atypical receptors. Intern...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2015.00167
更新日期:2015-11-09 00:00:00
abstract::Limb length inequality results from many types of musculoskeletal disorders. Asymmetric weight bearing from a limb length discrepancy of less than 2% can have debilitating consequences such as back problems and early-onset osteoarthritis. Existing treatments include invasive surgeries and/or drug regimens that are oft...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2018.00289
更新日期:2018-06-04 00:00:00
abstract::Objective: Quantitative investigations of facial changes in acromegaly are rare. A new imaging technique, three-dimensional (3D) stereophotography, can accurately quantify whole facial changes. We aimed to measure facial characteristics in acromegaly patients using 3D stereophotography, analyze gender-specific feature...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2018.00722
更新日期:2018-11-29 00:00:00
abstract:Background:Levothyroxine sodium (LT4) is the therapy of choice for hypothyroidism. In the last decade, new LT4 formulations, such as liquid and softgel capsules, became available. Even if some evidence has been reached in the efficacy of liquid LT4 in patients with suboptimal TSH on tablet LT4, the usefulness of softge...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2018.00118
更新日期:2018-03-21 00:00:00
abstract:Objectives:Based on data from the China National Health Survey, we aimed to examine the association between body height and cardiometabolic disease (CMD) in a large adult population from Shaanxi province, and further to test whether this association was hinged upon other population characteristics. Methods:This popula...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2020.587616
更新日期:2020-12-21 00:00:00
abstract::Background: This study investigated the relationship strength between hypothyroidism and cardiovascular and renal outcomes in diabetic patients. Methods: The electronic databases PubMed, EmBase, and Cochrane library were screened for relevant studies published before November 2018. The outcomes included major cardiova...
journal_title:Frontiers in endocrinology
pub_type:
doi:10.3389/fendo.2019.00889
更新日期:2020-01-10 00:00:00
abstract::Protease-activated receptors (PARs) belong to the G protein-coupled receptor (GPCR) family. Compared to other GPCRs, the specificity of the four PARs is the lack of physiologically soluble ligands able to induce their activation. Indeed, PARs are physiologically activated after proteolytic cleavage of their N-terminal...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章,评审
doi:10.3389/fendo.2019.00717
更新日期:2019-10-24 00:00:00
abstract::Aim: Exercise training elicits diverse effects on brown (BAT) and white adipose tissue (WAT) physiology in rodents housed below their thermoneutral zone (i.e., 28-32°C). In these conditions, BAT is chronically hyperactive and, unlike human residence, closer to thermoneutrality. Therefore, we set out to determine the e...
journal_title:Frontiers in endocrinology
pub_type: 杂志文章
doi:10.3389/fendo.2020.00097
更新日期:2020-03-20 00:00:00