Article
Endocrinology & Metabolism
Louise C. Gregory, Peter Gergics, Marilena Nakaguma, Hironori Bando, Giuseppa Patti, Mark J. McCabe, Qing Fang, Qianyi Ma, Ayse Bilge Ozel, Jun Z. Li, Michele Moreira Poina, Alexander A. L. Jorge, Anna F. Figueredo Benedetti, Antonio M. Lerario, Ivo J. P. Arnhold, Berenice B. Mendonca, Mohamad Maghnie, Sally A. Camper, Luciani R. S. Carvalho, Mehul T. Dattani
Summary: OTX2 mutations are rarely associated with isolated hypopituitarism without eye abnormalities, with variable penetrance even within the same pedigree. Our data suggest that endocrine phenotypes in patients with OTX2 mutations originate from the hypothalamus, with OTX2 expression in multiple brain regions during human embryogenesis.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Hironori Bando, Shin Urai, Keitaro Kanie, Yuriko Sasaki, Masaaki Yamamoto, Hidenori Fukuoka, Genzo Iguchi, Sally A. Camper
Summary: This review provides an overview of newly reported causative genes for combined pituitary hormone deficiency (CPHD), as well as discussing novel variants of known CPHD-related genes. Clinical and basic research may help in inferring the causative genes of CPHD, and future analysis may reveal new genes related to pituitary development.
FRONTIERS IN ENDOCRINOLOGY
(2022)
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
Medicine, Research & Experimental
Jessica Cassin, Maria I. Stamou, Kimberly W. Keefe, Kaitlin E. Sung, Celine C. Bojo, Karen J. Tonsfeldt, Rebecca A. Rojas, Vanessa Ferreira Lopes, Lacey Plummer, Kathryn B. Salnikov, David L. Keefe, Metin Ozata, Myron Genel, Neoklis A. Georgopoulos, Janet E. Hall, William F. Crowley, Stephanie B. Seminara, Pamela L. Mellon, Ravikumar Balasubramanian
Summary: Pathogenic variants of the SRY-box transcription factor 2 (SOX2) typically result in severe ocular defects and hypogonadotropic hypogonadism within the SOX2 disorder spectrum. In this study, we identified 8 individuals with idiopathic hypogonadotropic hypogonadism (IHH) who carried pathogenic SOX2 variants with variable ocular phenotypes. Functional testing showed a causal relationship between SOX2 and IHH, and the expression of SOX2 in the hypothalamus was associated with kisspeptin expression. Our findings suggest that pathogenic SOX2 variants contribute to different forms of IHH and highlight the importance of SOX2 screening in genetic evaluation for IHH.
Article
Biochemistry & Molecular Biology
Joanna Smyczynska, Natalia Pawelak, Maciej Hilczer, Andrzej Lewinski
Summary: Growth hormone deficiency is a common component of combined pituitary hormone deficiency, often with unknown genetic causes, leading to severe symptoms depending on the deficient hormone type. MRI findings show abnormalities in anterior pituitary development, and delayed diagnosis and treatment can be life-threatening.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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
Medicine, General & Internal
Shuang-Zhu Lin, Qi-Ji Ma, Qi-Ming Pang, Qian-Dui Chen, Wan-Qi Wang, Jia-Yi Li, Su-Li Zhang
Summary: This study reported previously unreported genetic mutations of the LHX3 gene and recorded the treatment process of patients. The analysis showed that these two variants are associated with combined pituitary hormone deficiency. This research provides important data for the diagnosis and treatment of CPHD.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Genetics & Heredity
Nicolas Corniere, R. Brent Thomson, Stephanie Thauvin, Bruno O. Villoutreix, Sophie Karp, Diane W. Dynia, Sarah Burlein, Lennart Brinkmann, Alaa Badreddine, Aurelie Dechaume, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Philippe Froguel, Regine Chambrey, Peter S. Aronson, Amelie Bonnefond, Dominique Eladari
Summary: Nephrolithiasis is a complex disease affecting a significant portion of the global population, and a rare mutation in the SLC26A6 gene has been identified to be associated with hyperoxaluria, affecting oxalate transport and potentially leading to the formation of calcium oxalate stones.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Endocrinology & Metabolism
Yiyi Zhu, Min Nie, Xi Wang, Qibin Huang, Bingqing Yu, Rui Zhang, Junyi Zhang, Bang Sun, Jiangfeng Mao, Xueyan Wu
Summary: Recombinant human growth hormone (rhGH) effectively induces spermatogenesis in patients with congenital combined pituitary hormone deficiency (CCPHD). Combination treatment with rhGH and gonadotropins leads to higher spermatogenesis rate, shorter time for initial sperm appearance, and higher serum testosterone level.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Louise Kjersgaard Jakobsen, Rikke Beck Jensen, Niels Holtum Birkebaek, Dorte Hansen, Ann-Margrethe Ronholt Christensen, Maja Carsting Bjerrum, Henrik Thybo Christesen
Summary: This study aimed to estimate the national incidence of congenital combined pituitary hormone deficiency (cCPHD) diagnosed before the age of 18, and in subgroups. Data from Danish registries revealed an estimated national incidence of cCPHD of 10.34 per 100,000 births, with an annual incidence rate of 5.74 per million. The incidence was highest in the 1-17 years age group, highlighting the importance of investigating multiple pituitary hormones throughout childhood and adolescence in children with only one hormone deficiency.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
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)
Review
Endocrinology & Metabolism
Junyu Zhao, Lusi Xu, Chunyu Li, Fei Wang, Lin Liao, Jianjun Dong
Summary: The clinical characteristics and gene mutations of RTH coexisting with pituitary tumors were analyzed. It was found that the disease mainly occurred in women and had various clinical manifestations and different treatment options. Further studies on the mechanism and increasing the number of cases are needed.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Mariam Moalla, Mouna Mnif-Feki, Wajdi Safi, Nadia Charfi, Nabila Mejdoub-Rekik, Mohamed Abid, Faten Hadj Kacem, Hassen Hadj Kacem
Summary: This study reports the genetic analysis of Tunisian patients with non-syndromic CPHD and describes the patterns and evolution of their phenotype. Two mutations were identified, one previously reported (p.Arg73Cys) and one newly discovered (p.(Gln114Ter)), in unrelated Tunisian families with non-syndromic CPHD. The study highlights the clinical significance of the high frequency of the p.Arg73Cys mutation in Tunisian CPHD families and sheds light on the involvement of novel gene(s) in the emergence of non-syndromic CPHD.
JOURNAL OF CLINICAL MEDICINE
(2022)
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
Henrik Falhammar, Sofia Tornvall, Charlotte Hoybye
Summary: Acute symptomatic pituitary apoplexy is a rare and potentially life-threatening condition that presents with symptoms such as headache and hormonal deficiencies. Most patients have characteristic MRI findings, and only a small number require acute pituitary surgery.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Pediatrics
Ian Marshall, Rajeev Mehta, Charletta Ayers, Smita Dhumal, Anna Petrova
Review
Obstetrics & Gynecology
Ian Marshall, Rajeev Mehta, Anna Petrova
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2013)
Review
Pediatrics
Ahmed Khattab, Ian Marshall
CURRENT OPINION IN PEDIATRICS
(2019)
Article
Biochemistry & Molecular Biology
Helena F. Schteingart, Jean-Yves Picard, Clara Valeri, Ian Marshall, Dominique Treton, Nathalie di Clemente, Rodolfo A. Rey, Nathalie Josso
HUMAN MOLECULAR GENETICS
(2019)
Editorial Material
Pediatrics
Esha Shah, Ian Marshall
PEDIATRICS IN REVIEW
(2019)
Article
Medical Laboratory Technology
Virian D. Serei, Ian Marshall, Mary O. Carayannopoulos
CLINICA CHIMICA ACTA
(2019)
Review
Geriatrics & Gerontology
Justin S. Brandt, Amy J. Patel, Ian Marshall, Gloria A. Bachmann
Article
Multidisciplinary Sciences
Prerana Chatty, Ahmed Khattab, Ian Marshall
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2020)
Editorial Material
Medicine, Research & Experimental
Ahmed Khattab, Ian Marshall, Sally Radovick
JOURNAL OF CLINICAL INVESTIGATION
(2020)
Article
Multidisciplinary Sciences
Olga Yeliosof, Ian Marshall
Summary: Liver dysfunction can lead to changes in thyroid hormone metabolism, but the exact relationship between hyperthyroidism and liver dysfunction is unclear. A boy with acute hepatitis was incidentally found to have asymptomatic biochemical hyperthyroidism, with elevated T4 levels but no clinical signs of thyrotoxicosis.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2021)
Article
Genetics & Heredity
Youn Hee Jee, Mariam Gangat, Olga Yeliosof, Adrian G. Temnycky, Selena Vanapruks, Philip Whalen, Evgenia Gourgari, Cortney Bleach, Christine H. Yu, Ian Marshall, Jack A. Yanovski, Kathleen Link, Svetlana Ten, Jeffrey Baron, Sally Radovick
Summary: The study found that sporadic congenital hypopituitarism has a significant genetic component, but may less frequently be monogenic with full penetrance, suggesting a more complex etiology.
FRONTIERS IN GENETICS
(2021)
Article
Pediatrics
Natalie Gengel, Ian Marshall
Article
Endocrinology & Metabolism
Vidya Puthenpura, Kinjal Desai, Andrew Bauer, Ian Marshall
INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY
(2016)
Article
Endocrinology & Metabolism
Ashley Schaffer, Vidya Puthenpura, Ian Marshall
CASE REPORTS IN ENDOCRINOLOGY
(2016)
Article
Endocrinology & Metabolism
Marianne Jacob, Surabhi Menon, Christina Botti, Ian Marshall
CASE REPORTS IN ENDOCRINOLOGY
(2018)