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https://www.readbyqxmd.com/read/27917547/pituitary-stalk-interruption-syndrome-from-clinical-findings-to-pathogenesis
#1
REVIEW
Cheng-Zhi Wang, Ling-Ling Guo, Bai-Yu Han, Xing Su, Qing-Hua Guo, Yi-Ming Mu
Pituitary stalk interruption syndrome is a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency. The signs and symptoms of PSIS during the neonatal period and infancy are often overlooked and therefore diagnosis is delayed. The typical manifestations of PSIS can be detected by magnetic resonance imaging. Several genes in Wnt, Notch and Shh signaling pathways related to hypothalamic-pituitary development, such as PIT1, PROP1, LHX3/LHX4, PROKR2, OTX2, TGIF and HESX1, have been found to be associated with PSIS...
December 5, 2016: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/27773885/involvement-of-dna-methylation-in-regulating-rat-prop1-gene-expression-during-pituitary-organogenesis
#2
Hiroto Nishihara, Saishu Yoshida, Naoko Kanno, Naoto Nishimura, Hiroki Ueharu, Jun Ohgane, Takako Kato, Yukio Kato
PROP1 is a pituitary specific transcription factor that plays a crucial role in pituitary organogenesis. The Prop1 shows varied expression patterns that promptly emerge and then fade during the early embryonic period. However, the regulatory mechanisms governing Prop1 expression remain unclear. Here, we investigated whether Prop1 was under epigenetic regulation by DNA methylation. Bisulfite sequencing was performed on DNA obtained from the pituitary glands and livers of rats on embryonic days (E) 13.5 and E14...
October 21, 2016: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/27756091/identification-of-novel-prop1-and-pou1f1-mutations-in-patients-with-combined-pituitary-hormone-deficiency
#3
S Birla, R Khadgawat, V P Jyotsna, V Jain, M K Garg, A S Bhalla, A Sharma
Growth hormone deficiency (GHD) results from variations affecting the production and release of growth hormone (GH) and is of 2 types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). IGHD results from mutations in GH1 and GHRHR while CPHD is associated with defects in transcription factor genes PROP1, POU1F1, and HESX1. The present study reports on screening of POU1F1, PROP1, and HESX1 in CPHD patients and the novel variations identified. Fifty-one CPHD patients from 49 unrelated families clinically diagnosed on the basis of biochemical and imaging investigations along with 100 controls were enrolled...
December 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27740871/brown-adipose-tissue-function-is-enhanced-in-long-lived-male-ames-dwarf-mice
#4
Justin Darcy, Samuel McFadden, Yimin Fang, Joshua A Huber, Chi Zhang, Liou Y Sun, Andrzej Bartke
Ames dwarf mice (Prop1(df/df)) are long-lived due to a loss of function mutation, resulting in deficiency of GH, TSH, and prolactin. Along with a marked extension of longevity, Ames dwarf mice have improved energy metabolism as measured by an increase in their oxygen consumption and heat production, as well as a decrease in their respiratory quotient. Along with alterations in energy metabolism, Ames dwarf mice have a lower core body temperature. Moreover, Ames dwarf mice have functionally altered epididymal white adipose tissue (WAT) that improves, rather than impairs, their insulin sensitivity due to a shift from pro- to anti-inflammatory cytokine secretion...
December 2016: Endocrinology
https://www.readbyqxmd.com/read/27685990/cocaine-and-amphetamine-regulated-transcript-cart-peptide-is-expressed-in-precursor-cells-and-somatotropes-of-the-mouse-pituitary-gland
#5
Amanda H Mortensen, Sally A Camper
Cocaine-and Amphetamine Regulated Transcript (CART) peptide is expressed in the brain, endocrine and neuroendocrine systems and secreted into the serum. It is thought to play a role in regulation of hypothalamic pituitary functions. Here we report a spatial and temporal analysis of Cart expression in the pituitaries of adult and developing normal and mutant mice with hypopituitarism. We found that Prop1 is not necessary for initiation of Cart expression in the fetal pituitary at e14.5, but it is required indirectly for maintenance of Cart expression in the postnatal anterior pituitary gland...
2016: PloS One
https://www.readbyqxmd.com/read/27650955/regulation-of-pituitary-stem-cells-by-epithelial-to-mesenchymal-transition-events-and-signaling-pathways
#6
Leonard Y M Cheung, Shannon W Davis, Michelle L Brinkmeier, Sally A Camper, María Inés Pérez-Millán
The anterior pituitary gland is comprised of specialized cell-types that produce and secrete polypeptide hormones in response to hypothalamic input and feedback from target organs. These specialized cells arise from stem cells that express SOX2 and the pituitary transcription factor PROP1, which is necessary to establish the stem cell pool and promote an epithelial to mesenchymal-like transition, releasing progenitors from the niche. The adult anterior pituitary responds to physiological challenge by mobilizing the SOX2-expressing progenitor pool and producing additional hormone-producing cells...
September 17, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27596959/isolation-of-adult-pituitary-stem-progenitor-cell-clusters-located-in-the-parenchyma-of-the-rat-anterior-lobe
#7
Saishu Yoshida, Naoto Nishimura, Hiroki Ueharu, Naoko Kanno, Masashi Higuchi, Kotaro Horiguchi, Takako Kato, Yukio Kato
Recent studies have demonstrated that Sox2-expressing stem/progenitor cells play roles in the pituitary cell turnover. Two types of niches have been proposed for stem/progenitor cells, the marginal cell layer (MCL) and the dense cell clusters in the parenchyma. Among them, the appearance of the parenchymal-niche only after birth indicates that this niche is involved in the cell turnover required for the postnatal pituitary. However, little is known about the roles of the parenchymal-niche and its regulation...
August 30, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27564454/identification-of-a-novel-progenitor-cell-marker-grainyhead-like-2-in-the-developing-pituitary
#8
Whitney Edwards, Leah B Nantie, Lori T Raetzman
BACKGROUND: Pituitary stem/progenitor cells give rise to all of the endocrine cell types within the pituitary gland and are necessary for both development and gland homeostasis. Recent studies have identified several key factors that characterize the progenitor cell population. However, little is known about the factors that regulate progenitor cell differentiation and maintenance. Therefore, it is crucial to identify novel factors that help elucidate mechanisms of progenitor cell function in the developing pituitary...
November 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/27487097/long-term-outcomes-genetics-and-pituitary-morphology-in-patients-with-isolated-growth-hormone-deficiency-and-multiple-pituitary-hormone-deficiencies-a-single-centre-experience-of-four-decades-of-growth-hormone-replacement
#9
Julia Rohayem, Hendrik Drechsel, Bettina Tittel, Gabriele Hahn, Roland Pfaeffle, Angela Huebner
BACKGROUND: Growth hormone (GH) has been used to treat children with GH deficiency (GHD) since 1966. AIMS: Using a combined retrospective and cross-sectional approach, we explored the long-term outcomes of patients with GHD, analysed factors influencing therapeutic response, determined persistence into adulthood, investigated pituitary morphology, and screened for mutations in causative genes. METHODS: The files of 96 GH-deficient children were reviewed...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27351100/prop1-triggers-epithelial-mesenchymal-transition-like-process-in-pituitary-stem-cells
#10
María Inés Pérez Millán, Michelle L Brinkmeier, Amanda H Mortensen, Sally A Camper
Mutations in PROP1 are the most common cause of hypopituitarism in humans; therefore, unraveling its mechanism of action is highly relevant from a therapeutic perspective. Our current understanding of the role of PROP1 in the pituitary gland is limited to the repression and activation of the pituitary transcription factor genes Hesx1 and Pou1f1, respectively. To elucidate the comprehensive PROP1-dependent gene regulatory network, we conducted genome-wide analysis of PROP1 DNA binding and effects on gene expression in mutant mice, mouse isolated stem cells and engineered mouse cell lines...
2016: ELife
https://www.readbyqxmd.com/read/27226307/growth-hormone-is-permissive-for-neoplastic-colon-growth
#11
Vera Chesnokova, Svetlana Zonis, Cuiqi Zhou, Maria Victoria Recouvreux, Anat Ben-Shlomo, Takako Araki, Robert Barrett, Michael Workman, Kolja Wawrowsky, Vladimir A Ljubimov, Magdalena Uhart, Shlomo Melmed
Growth hormone (GH) excess in acromegaly is associated with increased precancerous colon polyps and soft tissue adenomas, whereas short-stature humans harboring an inactivating GH receptor mutation do not develop cancer. We show that locally expressed colon GH is abundant in conditions predisposing to colon cancer and in colon adenocarcinoma-associated stromal fibroblasts. Administration of a GH receptor (GHR) blocker in acromegaly patients induced colon p53 and adenomatous polyposis coli (APC), reversing progrowth GH signals...
June 7, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27190246/original-research-metabolic-alterations-from-early-life-thyroxine-replacement-therapy-in-male-ames-dwarf-mice-are-transient
#12
Justin Darcy, Yimin Fang, Cristal M Hill, Sam McFadden, Liou Y Sun, Andrzej Bartke
Ames dwarf mice are exceptionally long-lived due to a Prop1 loss of function mutation resulting in deficiency of growth hormone, thyroid-stimulating hormone and prolactin. Deficiency in thyroid-stimulating hormone and growth hormone leads to greatly reduced levels of circulating thyroid hormones and insulin-like growth factor 1, as well as a reduction in insulin secretion. Early life growth hormone replacement therapy in Ames dwarf mice significantly shortens their longevity, while early life thyroxine (T4) replacement therapy does not...
October 2016: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27114065/identification-of-novel-ghrhr-and-gh1-mutations-in-patients-with-isolated-growth-hormone-deficiency
#13
Shweta Birla, Rajesh Khadgawat, Viveka P Jyotsna, Vandana Jain, M K Garg, Ashu Seith Bhalla, Arundhati Sharma
OBJECTIVE: Human growth is an elementary process which starts at conception and continues through different stages of development under the influence of growth hormone (GH) secreted by the anterior pituitary gland. Variation affecting the production, release and functional activity of GH leads to growth hormone deficiency (GHD), which is of two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). IGHD may result from mutations in GH1 and GHRHR while CPHD is associated with defects in transcription factor genes PROP1, POU1F1 and HESX1...
August 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/27000987/hesx1-mutations-in-patients-with-congenital-hypopituitarism-variable-phenotypes-with-the-same-genotype
#14
Qing Fang, Anna Flavia Figueredo Benedetti, Qianyi Ma, Louise Gregory, Jun Z Li, Mehul Dattani, Abdollah Sadeghi-Nejad, Ivo J P Arnhold, Berenice Bilharinho Mendonca, Sally A Camper, Luciani R Carvalho
INTRODUCTION: Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD) with or without septo-optic dysplasia (SOD). So far there is no clear genotype-phenotype correlation. PATIENTS AND RESULTS: We report four different recessive loss-of-function mutations in three unrelated families with CPHD and no midline defects or SOD. A homozygous p.R160C mutation was found by Sanger sequencing in two siblings from a consanguineous family...
September 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/26947989/growth-development-puberty-and-adult-height-of-patients-with-congenital-multiple-pituitary-hormone-deficiencies
#15
Hadar Haim-Pinhas, Rivka Kauli, Pearl Lilos, Zvi Laron
OBJECTIVE: Congenital MPHD is a rare condition caused by mutations in pituitary transcription factors genes: PROP1, POU1F1 (PIT1), HESX1, LHX3, LHX4. DESIGN: We evaluated in a retrospective study the effects on growth and development in 29 patients with congenital MPHD (cMPHD), during hGH replacement therapy alone and combined with sex hormones. Twenty nine patients with cMPHD were included and diagnosed, treated and followed in our clinic from diagnosis to adult age...
April 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/26886902/cancerous-leptomeningitis-and-familial-congenital-hypopituitarism
#16
S Vujovic, S Vujosevic, S Kavaric, J Sopta, M Ivovic, A Saveanu, T Brue, M Korbonits, V Popovic
People are at higher risk of cancer as they get older or have a strong family history of cancer. The potential influence of environmental and behavioral factors remains poorly understood. Earlier population and case control studies reported that upper quartile of circulating IGF-I is associated with a higher risk of developing cancer suggesting possible involvement of the growth hormone (GH)/IGF system in initiation or progression of cancer. Since GH therapy increases IGF-1 levels, there have been concerns that GH therapy in hypopituitarism might increase the risk of cancer...
May 2016: Endocrine
https://www.readbyqxmd.com/read/26812162/all-hormone-producing-cell-types-of-the-pituitary-intermediate-and-anterior-lobes-derive-from-prop1-expressing-progenitors
#17
Shannon W Davis, Jessica L Keisler, María I Pérez-Millán, Vanessa Schade, Sally A Camper
Mutations in PROP1, the most common known cause of combined pituitary hormone deficiency in humans, can result in the progressive loss of all hormones of the pituitary anterior lobe. In mice, Prop1 mutations result in the failure to initiate transcription of Pou1f1 (also known as Pit1) and lack somatotropins, lactotropins, and thyrotropins. The basis for this species difference is unknown. We hypothesized that Prop1 is expressed in a progenitor cell that can develop into all anterior lobe cell types, and not just the somatotropes, thyrotropes, and lactotropes, which are collectively known as the PIT1 lineage...
April 2016: Endocrinology
https://www.readbyqxmd.com/read/26781211/a-novel-mutation-in-hesx1-causes-combined-pituitary-hormone-deficiency-without-septo-optic-dysplasia-phenotypes
#18
Masaki Takagi, Mai Takahashi, Yoshiaki Ohtsu, Takeshi Sato, Satoshi Narumi, Hirokazu Arakawa, Tomonobu Hasegawa
Heterozygous and/or homozygous HESX1 mutations have been reported to cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), in association with septo optic dysplasia (SOD). We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes. The propositus was a one-year-old Japanese girl. Shortly after birth, she was found to be hypoglycemic. She was diagnosed with central adrenal insufficiency based on low cortisol and ACTH at a time of severe hypoglycemia...
April 25, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/26757742/delayed-adrenarche-may-be-an-additional-feature-of-immunoglobulin-super-family-member-1-deficiency-syndrome
#19
Severine Van Hulle, Margarita Craen, Bert Callewaert, Sjoerd Joustra, Wilma Oostdijk, Monique Losekoot, Jan Maarten Wit, Marc Olivier Turgeon, Daniel J Bernard, Jean De Schepper
Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty...
March 5, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/26733480/mechanisms-in-endocrinology-an-update-in-the-genetic-aetiologies-of-combined-pituitary-hormone-deficiency
#20
REVIEW
Frederic Castinetti, Rachel Reynaud, Alexandru Saveanu, Nicolas Jullien, Marie Helene Quentien, Claire Rochette, Anne Barlier, Alain Enjalbert, Thierry Brue
Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes of inheritance for alterations of genes encoding transcription factors have also been described. Finally, actors known to be involved in a very specific phenotype (hypogonadotroph hypogonadism for instance) have been identified in a wider range of phenotypes...
June 2016: European Journal of Endocrinology
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