Article
Genetics & Heredity
Xi Yang, Mingming Yuan, Zhuoguang Li, Yanqin Ying, Ling Hou, Xiaoping Luo
Summary: This study reported a case of IGHD caused by novel compound heterozygous mutations in the GH1 gene, emphasizing the importance of genetic testing and diagnosis based on clinical characteristics to prevent misdiagnosis.
BMC MEDICAL GENOMICS
(2021)
Article
Endocrinology & Metabolism
Shigeru Suzuki, Kumihiro Matsuo, Yoshiya Ito, Atsushi Kobayashi, Takahide Kokumai, Akiko Furuya, Osamu Ueda, Tokuo Mukai, Koichi Yano, Kenji Fujieda, Akimasa Okuno, Yusuke Tanahashi, Hiroshi Azuma
Summary: This study reported a three-generation family with varying degrees of CPHD, including growth hormone deficiency and intrafamilial variability of prolactin/TSH insufficiency, as well as unexpected prolactinoma occurrence. The findings suggest that PIT-1 beta mutation can cause CPHD through a novel genetic mechanism, such as PIT-1 beta overexpression, and indicate that POU1F1 mutation might be associated with prolactinoma. Further analysis and long-term follow-up of new patients are needed to clarify the characteristics of PIT-1 beta mutations.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Stefano Stagi, Maria Tufano, Nicolo Chiti, Matteo Cerutti, Alessandra Li Pomi, Tommaso Aversa, Malgorzata Wasniewska
Summary: Congenital growth hormone deficiency is a rare disease caused by disorders affecting the pituitary gland. It is often associated with multiple pituitary hormone deficiency and may have a genetic basis. Diagnosis should be made through laboratory analysis rather than magnetic resonance imaging. Early hormone replacement therapy leads to positive outcomes such as improved growth and metabolic function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Lukas Plachy, Shenali Anne Amaratunga, Petra Dusatkova, Klara Maratova, Vit Neuman, Lenka Petruzelkova, Dana Zemkova, Barbora Obermannova, Marta Snajderova, Stanislava Kolouskova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
Summary: The genetic etiology of short stature in children with diagnosed growth hormone deficiency (GHD) was studied. It was found that the primary cause of short stature in these children was growth plate disorders, not deficiency in growth hormone.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Peter Gergics, Cathy Smith, Hironori Bando, Alexander A. L. Jorge, Denise Rockstroh-Lippold, Sebastian A. Vishnopolska, Frederic Castinetti, Mariam Maksutova, Luciani Renata Silveira Carvalho, Julia Hoppmann, Julian Martinez Mayer, Frederique Albarel, Debora Braslavsky, Ana Keselman, Ignacio Bergada, Marcelo A. Marti, Alexandru Saveanu, Anne Barlier, Rami Abou Jamra, Michael H. Guo, Andrew Dauber, Marilena Nakaguma, Berenice B. Mendonca, Sajini N. Jayakody, A. Bilge Ozel, Qing Fang, Qianyi Ma, Jun Z. Li, Thierry Brue, Maria Ines Perez Millan, Ivo J. P. Arnhold, Roland Pfaeffle, Jacob O. Kitzman, Sally A. Camper
Summary: This study identified new variants that affect transcription and splicing of the POU1F1 gene, which may lead to pituitary hormone deficiency. The research underscores the importance of evaluating the impact of splicing on variants for interpreting unknown significance variants in POU1F1.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Medicine, General & Internal
Ana-Belen Ariza-Jimenez, Isabel Leiva Gea, Maria Jose Martinez-Aedo Ollero, Juan Pedro Lopez-Siguero
Summary: The study found that patients with isolated growth hormone deficiency (IGHD) and idiopathic short stature (ISS) who received growth hormone treatment had similar final heights, with treated groups being taller than untreated groups.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Han Hyuk Lim, Yoo Mi Kim, Gyung Min Lee, Jaehong Yu, Heon-Seok Han, Jeesuk Yu
Summary: The study compared the growth responses of children and adolescents with GH deficiency (GHD) to 3 years of growth hormone (GH) treatment according to different types of GHD. It found that idiopathic GHD patients had greater growth velocity and parental-adjusted height gain compared to organic GHD patients. The prevalence of multiple pituitary hormone deficiency (MPHD) was also higher in organic GHD patients. The growth outcomes after GH treatment were not consistent between the different groups.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Article
Endocrinology & Metabolism
Lars Savendahl, Tadej Battelino, Michael Hojby Rasmussen, Meryl Brod, Paul Saenger, Reiko Horikawa
Summary: This study evaluated the efficacy, safety, and tolerability of once-weekly somapacitan treatment for GH deficiency in children over a three-year period. The results showed sustained efficacy in height-related outcomes with similar safety and tolerability to daily GH treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Nunzia Prencipe, Lorenzo Marinelli, Emanuele Varaldo, Daniela Cuboni, Alessandro Maria Berton, Fabio Bioletto, Chiara Bona, Valentina Gasco, Silvia Grottoli
Summary: Hypopituitarism refers to a deficiency in one or more pituitary hormones. It can lead to increased disability and sick days, lower health status, higher cost of care, and increased mortality. The diagnosis of isolated pituitary deficits can be challenging, and the etiologies vary from pituitary tumors to immune-related dysfunctions caused by oncological drugs. Treatment options depend on the specific deficit, with prompt replacement for ACTH and TSH deficiencies, and a benefit-risk evaluation for gonadal replacement therapy. However, growth hormone replacement therapy and prolactin replacement therapy are still areas of debate.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Anxo Martinez-Ordonez, Samuel Seoane, Leandro Avila, Noemi Eiro, Manuel Macia, Efigenia Arias, Fabio Pereira, Tomas Garcia-Caballero, Noemi Gomez-Lado, Pablo Aguiar, Francisco Vizoso, Roman Perez-Fernandez
Summary: Metabolic reprogramming in breast cancer cells and fibroblasts is influenced by the transcription factor POU1F1 through its regulation of the LDHA gene, leading to increased cancer progression.
Article
Genetics & Heredity
Samar S. Hassan, Mohamed Abdullah, Katarina Trebusak Podkrajsek, Salwa Musa, Areej Ibrahim, Omer Babiker, Jernej Kovac, Tadej Battelino, Magdalena Avbelj Stefanija
Summary: This study identified pathogenic variants in the POU1F1 gene that are associated with combined pituitary hormone deficiency and other neurologic phenotypes. The findings highlight the importance of genetic testing in countries with high rates of consanguineous marriage, and contribute to a more rational approach to the clinical management of hypopituitarism.
Article
Cell Biology
Qiuyue Li, Zhenran Xu, Miaoying Zhang, Zhuhui Zhao, Bijun Sun, Lin Yang, Wei Lu, Feihong Luo, Chengjun Sun
Summary: Two siblings from a nonconsanguineous Chinese Han family were diagnosed with IGHD type I due to compound heterozygous mutations in GH1, involving a deletion and a splicing mutation. A systematic review of published cases revealed that patients with IGHD type Ia had the most severely impaired height, and their height standard deviation score decreased with age at diagnosis. Patients with IGHD type II received the longest duration of rhGH treatment, while those with IGHD type Ib showed the highest relative height improvement.
GROWTH HORMONE & IGF RESEARCH
(2021)
Review
Medicine, General & Internal
Gudmundur Johannsson, Oskar Ragnarsson
Summary: GH deficiency is common in patients with hypothalamic-pituitary disorders, and its replacement therapy can improve symptoms and quality of life while maintaining a good safety profile.
JOURNAL OF INTERNAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Estefania Landi, Liliana Karabatas, Tomas Rodriguez Gomez, Lucia Salatino, Paula Scaglia, Laura Ramirez, Ana Keselman, Debora Braslavsky, Nora Sanguineti, Patricia Pennisi, Rodolfo A. Rey, Ignacio Bergada, Hector G. Jasper, Horacio M. Domene, Paola Plazas, Sabina Domene
Summary: Growth hormone activates JAK2-STAT5b pathway, leading to the transcription of IGF1, IGFBP3, and IGFALS. Heterozygous dominant-negative STAT5B variants were found to cause milder growth deficit and immune dysfunction. In zebrafish, overexpression of these variants resulted in developmental malformations, indicating their pathogenicity.
HUMAN MOLECULAR GENETICS
(2023)
Article
Endocrinology & Metabolism
Bradley S. Miller, Joanne C. Blair, Michael Hojby Rasmussen, Aristides Maniatis, Jun Mori, Volker Boettcher, Ho-Seong Kim, Rikke Beck Bang, Michel Polak, Reiko Horikawa
Summary: This study evaluated the efficacy and tolerability of somapacitan in children with growth hormone deficiency (GHD) for 2 years and after switching from daily growth hormone treatment. The results showed that somapacitan was effective and well-tolerated during the 2-year period, and patients and caregivers preferred once-weekly somapacitan treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Nabila Fritez, Marie-Laure Sobrier, Hinde Iraqi, Marie-Pierre Vie-Luton, Irene Netchine, Abdessamad El Annas, Jacques Pantel, Nathalie Collot, Sophie Rose, William Piterboth, Marie Legendre, Abdelmjid Chraibi, Serge Amselem, Abdelkrim Kadiri, Latifa Hilal
CLINICAL ENDOCRINOLOGY
(2015)
Article
Genetics & Heredity
Dania V. Sizova, Agnes Keh, Ben F. Taylor, Joann B. Sweasy
Article
Endocrinology & Metabolism
Enzo Cohen, Mohamad Maghnie, Nathalie Collot, Juliane Leger, Florence Dastot, Michel Polak, Sophie Rose, Philippe Touraine, Philippe Duquesnoy, Maite Tauber, Bruno Copin, Anne-Marie Bertrand, Frederic Brioude, Daniela Larizza, Thomas Edouard, Laura Gonzalez Briceno, Irene Netchine, Isabelle Oliver-Petit, Marie-Laure Sobrier, Serge Amselem, Marie Legendre
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2017)
Article
Medicine, General & Internal
Werner F. Blum, Juergen Klammt, Serge Amselem, Heike M. Pfaeffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfaeffle
Article
Multidisciplinary Sciences
Walid Abi Habib, Frederic Brioude, Salah Azzi, Sylvie Rossignol, Agnes Linglart, Marie-Laure Sobrier, Eloise Giabicani, Virginie Steunou, Madeleine D. Harbison, Yves Le Bouc, Irene Netchine
Article
Genetics & Heredity
Enzo Cohen, Sabrina Belkacem, Soumeya Fedala, Nathalie Collot, Eliane Khallouf, Florence Dastot, Michel Polak, Philippe Duquesnoy, Frederic Brioude, Sophie Rose, Geraldine Viot, Aude Soleyan, Jean-Claude Carel, Marie-Laure Sobrier, Philippe Chanson, Frederique Gatelais, Claudine Heinrichs, Noureddine Kaffel, Regis Coutant, Senay Savas Erdeve, Erdal Kurnaz, Zehra Aycan, Caroline Thalassinos, Stanislas Lyonnet, Zeynep Siklar, Merih Berberoglu, Cecile Brachet, Serge Amselem, Marie Legendre
Article
Biochemistry & Molecular Biology
Daria Sizova, Jianying Huang, Elizabeth J. Akin, Mark Estacion, Carolina Gomis-Perez, Stephen G. Waxman, Sulayman D. Dib-Hajj
JOURNAL OF BIOLOGICAL CHEMISTRY
(2020)
Article
Obstetrics & Gynecology
Ana Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro, Silvia Costa, Carla Rosenberg, Virginie Steunou, Marie-Laure Sobrier, Lucas Santana, Rachel Sayuri Honjo, Chong Ae Kim, Francis de Zegher, Jan Idkowiak, Lorna C. Gilligan, Wiebke Arlt, Mariana Ferreira de Assis Funari, Alexander Augusto de Lima Jorge, Berenice Bilharinho Mendonca, Irene Netchine, Vinicius Nahime Brito, Ana Claudia Latronico
Summary: The study identified pathogenic or likely pathogenic (epi)genetic defects in 33% of patients with central precocious puberty (CPP) associated with multiple anomalies, providing insights into the genetics of human pubertal control. The results also revealed new candidate genes or regions potentially involved in the disorder of pubertal timing, such as 14q32.2 and 7q11.23.
HUMAN REPRODUCTION
(2021)
Article
Biochemistry & Molecular Biology
Aurelie Pham, Marie-Laure Sobrier, Eloise Giabicani, Marilyne Le Jules Fernandes, Delphine Mitanchez, Frederic Brioude, Irene Netchine
Summary: Silver-Russell syndrome (SRS) is a rare imprinting disorder associated with prenatal and postnatal growth retardation. While DLK1 has been shown to cause fetal growth restriction in mice, genetic defects of DLK1 have not been identified in patients with a similar SRS phenotype.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Dentistry, Oral Surgery & Medicine
Eloise Giabicani, Aurelie Pham, Celine Selenou, Marie-Laure Sobrier, Caroline Andrique, Julie Lesieur, Agnes Linglart, Anne Poliard, Catherine Chaussain, Irene Netchine
Summary: This study demonstrates the potential of dental pulp stem cells in modeling imprinting diseases through methylation analysis of imprinting control regions. The results suggest that dental pulp stem cells can be used for in vitro functional and therapeutic tests, as well as generating other cell types.
INTERNATIONAL JOURNAL OF ORAL SCIENCE
(2022)
Article
Endocrinology & Metabolism
Aurelie Pham, Delphine Mitanchez, Anne Forhan, Laurence Perin, Yves Le Bouc, Frederic Brioude, Marie-Laure Sobrier, Barbara Heude, Irene Netchine
Summary: Research suggests that lower levels of DLK1 in maternal blood during the second trimester of pregnancy may indicate a higher risk of SGA. However, DLK1 alone is not a reliable predictor of SGA.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Cell Biology
Celine Selenou, Frederic Brioude, Eloise Giabicani, Marie-Laure Sobrier, Irene Netchine
Summary: In the past 30 years, significant progress has been made in understanding the structure, function, and regulation of IGF2. Animal and human studies have revealed the complex regulation, physiological roles, and implications of IGF2 in diseases.
Article
Oncology
A. Pham, C. Selenou, E. Giabicani, V. Fontaine, S. Marteau, F. Brioude, L. David, D. Mitanchez, M. L. Sobrier, I. Netchine
Summary: This study extensively analyzed the methylation levels of imprinted control regions (ICRs) in iPSCs and found abnormal hypermethylation at certain ICRs, resulting in loss of parental imprinting (LOI) and biallelic expression of imprinted genes. They also discovered that the epiPS (TM) culture medium and culturing iPSCs under hypoxic conditions prevented hypermethylation at ICRs while preserving the properties of iPSCs. This suggests that human iPSCs are a promising cellular model to study the physiopathology of imprinting disorders (IDs) and test therapeutic strategies.
CLINICAL EPIGENETICS
(2022)