Cargando…

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A

Pseudohypoparathyroidism 1A (PHP1A) consists of signs of Albright hereditary osteodystrophy (AHO) and multiple, variable hormonal resistances. Elevated PTH levels are the biochemical hallmark of the disease. Short stature in PHP1A may be caused by a form of accelerated chondrocyte differentiation le...

Descripción completa

Detalles Bibliográficos
Autores principales:	Munteanu, Martin, Kiewert, Cordula, Matar, Nora, Hauffa, Berthold P, Unger, Nicole, Hiort, Olaf, Thiele, Susanne, Buiting, Karin, Bramswig, Nuria C, Grasemann, Corinna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608559/ https://www.ncbi.nlm.nih.gov/pubmed/31286103 http://dx.doi.org/10.1210/js.2019-00073

Ejemplares similares

Prevalence of Osteopathologies in Children and Adolescents After Diagnosis of Acute Lymphoblastic Leukemia
por: Schündeln, Michael M., et al.
Publicado: (2020)

Prevalence of osteopathologies in a single center cohort of survivors of childhood primary brain tumor
por: Schündeln, Michael M., et al.
Publicado: (2022)

A Piece of the Puzzle: The Bone Health Index of the BoneXpert Software Reflects Cortical Bone Mineral Density in Pediatric and Adolescent Patients
por: Schündeln, Michael M., et al.
Publicado: (2016)

A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene
por: Thiele, Susanne, et al.
Publicado: (2015)

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene
por: Şahin, Sezgin, et al.
Publicado: (2017)

The adrenal steroid profile in adolescent depression: a valuable bio-readout?
por: Hirtz, Raphael, et al.
Publicado: (2022)

Pseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected
por: Brambilla, Ilaria, et al.
Publicado: (2022)

Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?
por: De Rose, Domenico Umberto, et al.
Publicado: (2019)

Neonatal and Early Infancy Features of Patients With Inactivating PTH/PTHrP Signaling Disorders/Pseudohypoparathyroidism
por: Del Sindaco, Giulia, et al.
Publicado: (2023)

Effects of GHRH Deficiency and GHRH Antagonism on Emotional Disorders in Mice
por: Recinella, Lucia, et al.
Publicado: (2023)

No Effect of Thyroid Dysfunction and Autoimmunity on Health-Related Quality of Life and Mental Health in Children and Adolescents: Results From a Nationwide Cross-Sectional Study
por: Hirtz, Raphael, et al.
Publicado: (2020)

Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation
por: Guerreiro, R., et al.
Publicado: (2016)

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism
por: Portales‐Castillo, Ignacio, et al.
Publicado: (2022)

GHRH-antagonists in TNBC
por: Engel, Jörg B.
Publicado: (2015)

Impairment of Bone Health in Pediatric Patients with Hemolytic Anemia
por: Schündeln, Michael M., et al.
Publicado: (2014)

Cardiorespiratory fitness in adolescents and young adults with Klinefelter syndrome – a pilot study
por: Spiekermann, Julia, et al.
Publicado: (2023)

Maternal Vitamin D Status in Preeclampsia: Seasonal Changes Are Not Influenced by Placental Gene Expression of Vitamin D Metabolizing Enzymes
por: Lechtermann, Carolin, et al.
Publicado: (2014)

Long−Term Follow−Up of a Pseudohypoparathyroidism Type 1A Patient with Missense Mutation (Pro115Ser) in Exon 5
por: Erdeve, Şenay Savaş, et al.
Publicado: (2010)

Size Matters: The CAG Repeat Length of the Androgen Receptor Gene, Testosterone, and Male Adolescent Depression Severity
por: Hirtz, Raphael, et al.
Publicado: (2021)

Management of pseudohypoparathyroidism
por: Germain-Lee, Emily L.
Publicado: (2019)

P53, GHRH, inflammation and cancer
por: Barabutis, Nektarios, et al.
Publicado: (2018)

Full-length versus intact PTH concentrations in pseudohypoparathyroidism type 1 and primary hyperparathyroidism: clinical evaluation of immunoassays in individuals from China
por: Yang, Yi, et al.
Publicado: (2022)

Lack of Evidence for a Relationship Between the Hypothalamus-Pituitary-Adrenal and the Hypothalamus-Pituitary-Thyroid Axis in Adolescent Depression
por: Hirtz, Raphael, et al.
Publicado: (2021)

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
por: Mantovani, Giovanna, et al.
Publicado: (2018)

Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation
por: Kagami, Ryosuke, et al.
Publicado: (2020)

Inverse correlation of intact PTH, oxidized PTH as well as non-oxidized PTH with 25-hydroxyvitamin D3 in kidney transplant recipients
por: Zuo, Jiao, et al.
Publicado: (2023)

The Application of GHRH Antagonist as a Treatment for Resistant APL
por: Chale, Ravinder S., et al.
Publicado: (2023)

Pseudohypoparathyroidism: phenotypic spectrum in kindred
por: Natino, Antonette A A, et al.
Publicado: (2015)

Paroxysmal dyskinesia and epilepsy in pseudohypoparathyroidism
por: Zhang, Chao, et al.
Publicado: (2020)

Molecular Definition of Pseudohypoparathyroidism Variants
por: Jüppner, Harald
Publicado: (2021)

Fahr Syndrome Secondary to Pseudohypoparathyroidism
por: Shu, Sharon W, et al.
Publicado: (2023)

Transition for adolescents with a rare disease: results of a nationwide German project
por: Grasemann, Corinna, et al.
Publicado: (2023)

Somatostatin triggers rhythmic electrical firing in hypothalamic GHRH neurons
por: Osterstock, Guillaume, et al.
Publicado: (2016)

Parental Diabetes: The Akita Mouse as a Model of the Effects of Maternal and Paternal Hyperglycemia in Wildtype Offspring
por: Grasemann, Corinna, et al.
Publicado: (2012)

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting
por: Thiele, Susanne, et al.
Publicado: (2020)

Humerus Varus in a Patient with Pseudohypoparathyroidism
por: Cho, Tae-Joon, et al.
Publicado: (2005)

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism
por: Visconti, Paola, et al.
Publicado: (2016)

Pseudohypoparathyroidism Causing Multiple Brain Calcifications
por: Kobayashi, Yuya, et al.
Publicado: (2017)

Calcitriol and Levothyroxine Dosing for Patients With Pseudohypoparathyroidism
por: Antoun, Jacqueline, et al.
Publicado: (2021)

Beneficial effects of novel antagonists of GHRH in different models of Alzheimer's disease
por: Jaszberenyi, Miklos, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_6fstruddhmh09aru65bfq17d7j