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growth hormone deficiency, hypopituitarism

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https://www.readbyqxmd.com/read/29329447/congenital-hyperinsulinism-and-hypopituitarism-attributable-to-a-novel-mutation-in-foxa2
#1
Mary Ellen Vajravelu, Jinghua Chai, Bryan Krock, Samuel Baker, David Langdon, Craig Alter, Diva D De León
Context: Persistent hypoglycemia in the newborn period most commonly occurs due to hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic beta cells. In addition, Foxa2 is involved in regulation of pituitary development, and deletions of FOXA2 have been linked to panhypopituitarism...
January 10, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29217803/growth-hormone-deficiency-in-children-from-suspecting-to-diagnosing
#2
Varuna Vyas, Anil Kumar, Vandana Jain
Isolated Growth hormone deficiency is an important and treatable cause of short stature. However, it is often difficult to diagnose the condition with certainty due to the lack of a single robust diagnostic test. Short children, other than those with the classical phenotype of immature chubby facies, truncal obesity and micropenis in boys, or those with history of cranial lesions with known association with hypopituitarism, should be evaluated for growth hormone deficiency only after excluding the other more common conditions...
November 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29180983/therapy-induced-growth-and-sexual-maturation-in-a-developmentally-infantile-adult-patient-with-a-prop1-mutation
#3
Ludmila Brunerova, Ivana Cermakova, Bozena Kalvachova, Jana Skrenkova, Renata Poncova, Petr Sedlak
Background: Hypopituitarism as a result of PROP1 (prophet of PIT1) mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood. Case description: We present a unique case report of a prepubertal woman with growth retardation in whom combined pituitary hormone deficiency [central hypopituitarism, hypogonadism, and growth hormone (GH) deficiency] caused by homozygous mutation c...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29175558/a-complex-phenotype-in-a-family-with-a-pathogenic-sox3-missense-variant
#4
Anne M Jelsig, Birgitte R Diness, S Sven Kreiborg, Katharina Main, Vibeke A Larsen, Hanne Hove
Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29165725/somatotrope-pituitary-function-in-professional-soccer-players
#5
Pia Roser, Tatiana Wehrhahn, Henry Krogmann, Nina Riedel, Robert Percy Marshall, Justus Gille, Jörg Flitsch, Jens Aberle
Background and objective Soccer is associated with repetitive head trauma, which, as it is known from sports like football and boxing, can result in hypopituitarism. Gonadotropins and GH are the most common pituitary hormones to become deficient. GH deficiency is associated with an increased risk of cardiovascular mortality and has negative influence on body mass index, visceral fat mass, insulin resistance and sensitivity, bone mineral density and inflammatory markers. Therefore the aim of this study was to evaluate the somatotrope pituitary function in professional soccer players...
November 17, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#6
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29099758/the-hypothalamic-pituitary-axis-and-autoantibody-related-disorders
#7
REVIEW
Cristina Cocco, Carla Brancia, Giulia Corda, Gian-Luca Ferri
This review summarized different studies reporting the presence of autoantibodies reacting against cells of the pituitary (APAs) and/or hypothalamus (AHAs). Both APAs and AHAs have been revealed through immunofluorescence using different kinds of substrates. Autoantibodies against gonadotropic cells were mainly found in patients affected by cryptorchidism and hypogonadotropic hypogonadism while those against prolactin cells were found in different kinds of patients, the majority without pituitary abnormalities...
November 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29095270/pituitary-insufficiency-following-traumatic-thoracic-injury-in-an-adolescent-male-patient-a-case-report-and-literature-review
#8
REVIEW
Aleksandra Gilis-Januszewska, Łukasz Kluczyński, Małgorzata Wilusz, Jacek Pantofliński, Renata Turek-Jabrocka, Dorota Pach, Alicja Hubalewska-Dydejczyk
RATIONALE: Traumatic thoracic injuries in adolescents are rare but could be connected with traumatic brain injuries (TBI) and development of chronic hypopituitarism. Early recognition of these endocrine problems is a significant challenge to clinicians. We present difficulties in diagnosis of hypothalamic-pituitary insufficiency following traumatic thoracic injury in adolescence. We also review the literature of similar cases. PATIENT CONCERNS: We present a case of a 24-years-old male...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29030774/effects-of-growth-hormone-therapy-on-bone-density-and-fracture-risk-in-age-related-osteoporosis-in-the-absence-of-growth-hormone-deficiency-a-systematic-review-and-meta-analysis
#9
Maya Barake, Asma Arabi, Nancy Nakhoul, Ghada El-Hajj Fuleihan, Sarah El Ghandour, Anne Klibanski, Nicholas A Tritos
PURPOSE: In adults, growth hormone deficiency (GHD) has been associated with low bone mineral density (BMD), an effect counteracted by growth hormone (GH) replacement. Whether GH is beneficial in adults with age-related bone loss and without hypopituitarism is unclear. METHODS: We conducted a systematic literature search using Medline, Embase and the Cochrane Register of Controlled Trials. We extracted and analyzed data according to the bone outcome included [bone mineral content (BMC), BMD, and bone biomarker, fracture risk]...
October 13, 2017: Endocrine
https://www.readbyqxmd.com/read/28923784/assessment-of-quality-of-life-on-4-year-growth-hormone-therapy-in-japanese-patients-with-adult-growth-hormone-deficiency-a-post-marketing-multicenter-observational-study
#10
Hitoshi Ishii, Akira Shimatsu, Hiromi Nishinaga, Osamu Murai, Kazuo Chihara
OBJECTIVE: Improvement of quality of life (QOL) by growth hormone (GH) therapy was not demonstrated in Japanese adult growth hormone deficiency (AGHD) patients by either the QOL Assessment of Growth Hormone Deficiency in Adults or the Questions on Life Satisfaction-Hypopituitarism, which are widely used to evaluate QOL in Western AGHD patients. We therefore evaluated QOL in Japanese AGHD patients receiving recombinant GH, Norditropin® (Novo Nordisk A/S, Denmark), using the newly developed Adult Hypopituitarism Questionnaire (AHQ)...
September 1, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28885623/chronic-endocrine-consequences-of-traumatic-brain-injury-what-is-the-evidence
#11
REVIEW
Marianne Klose, Ulla Feldt-Rasmussen
Traumatic brain injury (TBI) is a major public health problem with potentially debilitating consequences for the individual. Hypopituitarism after TBI has received increasing attention over the past decade; development of the condition as a consequence of TBI was previously hardly mentioned in textbooks on the subject. Hypopituitarism has been reported in more than 25% of patients with TBI and is now thought to be one of the most important causes of treatable morbidity in TBI survivors. However, most clinicians dealing with neuroendocrine diseases and TBI generally do not see such a high incidence of hypopituitarism...
September 8, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28822018/the-prevalence-of-growth-hormone-deficiency-in-survivors-of-subarachnoid-haemorrhage-results-from-a-large-single-centre-study
#12
Sumithra Giritharan, Joanna Cox, Calvin J Heal, David Hughes, Kanna Gnanalingham, Tara Kearney
OBJECTIVE: The variation in reported prevalence of growth hormone deficiency (GHD) post subarachnoid haemorrhage (SAH) is mainly due to methodological heterogeneity. We report on the prevalence of GHD in a large cohort of patients following SAH, when dynamic and confirmatory pituitary hormone testing methods are systematically employed. DESIGN: In this cross-sectional study, pituitary function was assessed in 100 patients following SAH. Baseline pituitary hormonal profile measurement and glucagon stimulation testing (GST) was carried out in all patients...
December 2017: Pituitary
https://www.readbyqxmd.com/read/28661901/long-term-and-late-treatment-consequences-endocrine-and-metabolic-effects
#13
Thang S Han, Helena K Gleeson
PURPOSE OF REVIEW: Cancer therapies often result in the 'late effect of cancer treatment' whereby secondary health complications emerge years after radiotherapy and chemotherapy. This review focuses on endocrine and metabolic consequences in adult cancer survivors as late treatment effects. RECENT FINDINGS: Endocrine and metabolic disorders are among the most common late effects. Endocrine disorders include hypopituitarism, which leads to growth hormone deficiency, hypogonadism, adrenal insufficiency and hypothyroidism and related clinical manifestations...
September 2017: Current Opinion in Supportive and Palliative Care
https://www.readbyqxmd.com/read/28586151/a-heterozygous-microdeletion-of-20p12-2-3-encompassing-prokr2-and-bmp2-in-a-patient-with-congenital-hypopituitarism-and-growth-hormone-deficiency
#14
Samuel J H Parsons, Neville B Wright, Emma Burkitt-Wright, Mars S Skae, Phillip G Murray
Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control of a multitude of spatiotemporally regulated signaling molecules and transcription factors. Mutations in the genes encoding these molecules can result in hypopituitarism but for the majority of children with congenital hypopituitarism, the aetiology of their disease remains unknown. The proband is a 5-year-old girl who presented with neonatal hypoglycaemia and prolonged jaundice...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28483366/lessons-from-monogenic-causes-of-growth-hormone-deficiency
#15
Thierry Brue, Alexandru Saveanu, Nicolas Jullien, Teddy Fauquier, Frédéric Castinetti, Alain Enjalbert, Anne Barlier, Rachel Reynaud
Through the multicentric international GENHYPOPIT network, 10 transcription factor genes involved in pituitary development have been screened in more than 1200 patients with constitutional hypopituitarism over the past two decades. The present report summarizes the main lessons learned from this phenotype-based genetic screening: (1) genetically determined hypopituitarism does not necessarily present during childhood; (2) constitutional hypopituitarism may be characterized by a pure endocrine phenotype or by various combinations of endocrine deficits and visceral malformations; (3) syndromic hypopituitarism may also be observed in patients with POU1F1 or PROP1 mutations; (4) in cases of idiopathic hypopituitarism, extensive genetic screening identifies gene alterations in a minority of patients; (5) functional studies are imperfect in determining the involvement of an allelic variant in a specific pituitary phenotype...
May 5, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28472507/a-case-report-of-hypoglycemia-and-hypogammaglobulinemia-david-syndrome-in-a-patient-with-a-novel-nfkb2-mutation
#16
Rayhan A Lal, Laura K Bachrach, Andrew R Hoffman, Jingga Inlora, Shannon Rego, Michael P Snyder, David B Lewis
Context: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare disorder in which children present with symptomatic adrenocorticotropic hormone (ACTH) deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, called common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as a cause of DAVID syndrome or of CVID without clinical hypopituitarism...
July 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28458931/dental-abnormalities-in-pituitary-dwarfism-a-case-report-and-review-of-the-literature
#17
Franco Ferrante, Sergio Blasi, Rolando Crippa, Francesca Angiero
Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH) in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabilitation without surgical intervention, using zirconium substructures, thus eliminating the potential complications that may require trauma surgery...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28332357/rare-frequency-of-mutations-in-pituitary-transcription-factor-genes-in-combined-pituitary-hormone-or-isolated-growth-hormone-deficiencies-in-korea
#18
Jin Ho Choi, Chang Woo Jung, Eungu Kang, Yoon Myung Kim, Sun Hee Heo, Beom Hee Lee, Gu Hwan Kim, Han Wook Yoo
PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD)...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28217586/occult-endocrine-dysfunction-in-patients-with-cirrhosis-of-liver
#19
K V S Hari Kumar, A K Pawah, Manish Manrai
BACKGROUND: Liver dysfunction leads to endocrine disturbance due to the alteration in protein metabolism or synthesis. We studied the presence of occult endocrine dysfunction in liver cirrhosis and compared the same with underlying etiology. MATERIALS AND METHODS: We evaluated thirty patients with liver cirrhosis in this cross-sectional, observational study. All subjects were assessed for pituitary, thyroid, adrenal, and gonadal function. The patients were divided into Group 1 (cirrhosis, n = 30) and Group 2 (controls, n = 15) and the data were analyzed with appropriate statistical tests...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28217503/pituitary-dysfunction-in-traumatic-brain-injury-is-evaluation-in-the-acute-phase-worthwhile
#20
Pradip P Dalwadi, Nikhil M Bhagwat, Parimal S Tayde, Ameya S Joshi, Premlata K Varthakavi
INTRODUCTION: Traumatic brain injury (TBI) is an under-recognized cause of hypopituitarism. According to recent data, it could be more frequent than previously known. However, there is a scarcity of data in Indian population. AIMS: The main aim of the study was to determine the prevalence of pituitary hormone deficiencies in the acute phase of TBI. The secondary objectives were to correlate the severity of trauma with basal hormone levels and to determine whether initial hormone deficiencies predict mortality...
January 2017: Indian Journal of Endocrinology and Metabolism
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