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
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)
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
Biochemistry & Molecular Biology
Wilhelm Gossing, Lars Radke, Henrik Biering, Sven Diederich, Knut Mai, Marcus Frohme
Summary: The combination of ECS-complex proteins SOCS2, cullin-5, and Rbx-2 can effectively identify patients with acromegaly or GHD, even in cases where IGF-1 levels are normal or no treatment has been received. SOCS2 exhibits the best diagnostic performance individually, while the combination of the three proteins shows perfect sensitivity and specificity for all patient groups and controls.
Review
Endocrinology & Metabolism
Valentina Gasco, Valeria Cambria, Fabio Bioletto, Ezio Ghigo, Silvia Grottoli
Summary: Traumatic brain injury (TBI)-related hypopituitarism has been found to be more common than previously thought, affecting pituitary hormones such as growth hormone, gonadotropins, thyroid hormones, etc. The mechanisms of pituitary damage in TBI patients involve primary and secondary injuries, with long-standing growth hormone deficiency leading to neurocognitive and behavioral deficits. Further research is needed to better understand and characterize this clinical syndrome.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Medicine, General & Internal
Qi Wang, Xiangji Meng, Yan Sun, Fan Liu, Chao Xu, Yu Qiao, Jianmei Yang, Guimei Li, Yulin Wang
Summary: Pituitary stalk interruption syndrome (PSIS) is a rare disease with potential life-threatening complications in newborns. This study identified three neonatal patients with PSIS who presented with hypoglycemia, jaundice, and combined pituitary hormone deficiency. Patients responded well to alternative therapy and regular follow-up was crucial for good prognosis.
Article
Clinical Neurology
Yasuyuki Kinoshita, Akira Taguchi, Atsushi Tominaga, Kazunori Arita, Fumiyuki Yamasaki
Summary: Recovery from AGHD after initial TSS is more likely in younger female patients with higher peak GH levels assessed by preoperative PPT. Patients aged <= 62.2 years and with a peak GH level of >= 0.74 μg/L based on preoperative PPT are likely to recover from AGHD.
JOURNAL OF NEUROSURGERY
(2021)
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)
Article
Endocrinology & Metabolism
Subbiah Sridhar, Bhagadurshah Rameez Raja, Raghavendran Priyanka, Sundari Natarajan, Sumathy Soundararajan, Vasanthiy Natarajan
Summary: The purpose of this study was to analyze the clinical, hormonal, and radiological characteristics of Pituitary stalk interruption syndrome (PSIS) in children with growth hormone deficiency (GHD). The results showed that male gender, breech presentation, external congenital anomalies like cryptorchidism, midline defects, and nystagmus were more common in children with PSIS. Multiple pituitary hormone deficiency (MPHD) was more frequently seen in PSIS, whereas isolated growth hormone deficiency (IGHD) was more common in non-PSIS children. Despite absent or ectopic posterior pituitary in MRI, AVP deficiency was very rare in PSIS. A high index of clinical suspicion in severe short stature children may lead to early diagnosis and prompt initiation of growth hormone treatment for better outcomes.
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
Medicine, Research & Experimental
Gursimrat Bhatti, Audri Villalon, Ruosha Li, Mohamed Elammari, Alexandra Price, Lea Steele, Jose M. Garcia, Marco Marcelli, Ricardo Jorge
Summary: This study aimed to identify hormonal alterations in Gulf War veterans and the relationship between Gulf War Illness (GWI) and hormonal dysregulation. The results showed that veterans with GWI had lower quality of life and greater symptom severity. AGHD was observed in 35.3% of GWI veterans, significantly higher than the 7.7% in veterans without GWI.
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, General & Internal
Olga Gimenez-Palop, Laia Casamitjana, Raquel Corripio, Susanna Esteba-Castillo, Rocio Pareja, Nestor Albinana, Mercedes Rigla, Assumpta Caixas
Summary: In patients with Prader-Willi syndrome and obesity, plasma kisspeptin levels were higher compared to healthy subjects before treatment. After 12-month GH therapy, lean body mass increased, total fat mass decreased, and plasma kisspeptin levels decreased to normal levels, indicating improvements in body composition.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Endocrinology & Metabolism
Egidio Candela, Emanuele La Corte, Stefano Zucchini, Mariella Lefosse, Francesco Toni, Mino Zucchelli
Summary: This case report presents a patient with growth hormone deficiency (GHD) due to ectopic posterior pituitary and Chiari malformation type I (CM-1). The patient experienced headache and worsening of CM-1 after receiving rhGH therapy, but showed improvement after decompression surgery. It is important to closely monitor CM-1 patients receiving GH therapy for any neurological symptoms.
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Article
Endocrinology & Metabolism
Min Zhao, Kai Li, Hongchuan Niu, Yuanli Zhao, Changyu Lu
Summary: This study used case data analysis to examine changes in hormone levels before and after surgery in patients with pituitary adenoma and investigated the influence of various factors on endocrine function. The findings show that surgical intervention effectively improves endocrine disorders in these patients, with preoperative management of hormone levels facilitating postoperative remission. Multiple surgeries and an extended interval between hormone retesting and surgery can affect postoperative cortisol secretion function.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Ophthalmology
Dominique Bremond-Gignac, Serge Doan, Mourad Amrane, Dahlia Ismail, Jesus Montero, Janos Nemeth, Pasquale Aragona, Andrea Leonardi
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2020)
Article
Ophthalmology
Romain Touze, Yann Heuze, Matthieu P. Robert, Dominique Bremond-Gignac, Charles-Joris Roux, Syril James, Giovanna Paternoster, Eric Arnaud, Roman Hossein Khonsari
BRITISH JOURNAL OF OPHTHALMOLOGY
(2020)
Article
Pharmacology & Pharmacy
Celia Djayet, Dominique Bremond-Gignac, Justine Touchard, Philippe-Henri Secretan, Fabrice Vidal, Matthieu P. Robert, Alejandra Daruich, Salvatore Cisternino, Joel Schlatter
Summary: Congenital aniridia is a rare and severe panocular disease caused by PAX6 haploinsufficiency. Ataluren eye drops aim to restore ocular surface PAX6 haploinsufficiency in aniridia-related keratopathy (ARK) by using an oily formulation containing co-solvents to improve stability. The study demonstrates the physicochemical and microbiological stability of ataluren 1% eye drop formulation in an LDPE bottle with an innovative insert.
Article
Ophthalmology
B. Fayet, E. Racy, J-M Ruban, J. A. Katowitz, W. R. Katowitz, D. Bremond-Gignac
Summary: The study aimed to assess the performance of a pre-loaded Monoka stent in managing congenital nasolacrimal duct obstruction. The overall success rate of the surgery was 88.8%, and it was even higher for cases with simple mucosal stenosis.
JOURNAL FRANCAIS D OPHTALMOLOGIE
(2021)
Article
Genetics & Heredity
Florence Jobic, Emilie Lacot-Leriche, Amelie Piton, Anne-Gaelle Le Moing, Michele Mathieu-Dramard, Sara Costantini, Gilles Morin, Guillaume Jedraszak
Summary: Kleefstra syndrome (KS) is a rare autosomal dominant genetic disorder characterized by intellectual disability, speech delay/absence, autism spectrum disorder, and other distinctive features. Parental analysis can help identify mutations and guide genetic counseling. Reverse phenotyping may reveal additional characteristics for targeted follow-up and management.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Ophthalmology
Orly Dorot, Lauriane N. Roux, Lea Zennaro, Keren Oved, Dominique Bremond-Gignac, Edward Pichinuk, Daniel Aberdam
Summary: The study found that Duloxetine can enhance PAX6 activity and restore normal function of limbal cells in patients with aniridia-related keratopathy, and activates PAX6 expression by inhibiting the ERK pathway. This discovery is of great importance for the development of topical treatment drugs for aniridia.
Article
Ophthalmology
Alejandra Daruich, Matthieu P. Robert, Camille Leroy, Nathalie de Vergnes, Caroline Beugnet, Valerie Malan, Sophie Valleix, Dominique Bremond-Gignac
Summary: This study aimed to investigate the correlation between the degree of foveal hypoplasia in congenital aniridia and visual acuity, iris phenotype, and PAX6 mutations. Through analysis of imaging and genetic data, it was found that PAX6 gene mutations were associated with severe foveal hypoplasia, while deletions restricted to the 3rd regulatory region of PAX6 may result in better visual prognosis. The degree of foveal hypoplasia was found to be correlated with the severity of iris defects.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Genetics & Heredity
Lionel Arnaud, Marie-Therese Abi Warde, Giulia Barcia, Julitta de Bellescize, Nicolas Chatron, Marie Faoucher, Anne de Saint Martin, Delphine Heron, Guillaume Jedraszak, Caroline Lacoste, Anne-Sophie Lebre, Melanie Jenneson-Lyver, Audrey Labalme, Eric Leguern, Cyril Mignot, Mathieu Milh, Rima Nabbout, Caroline Nava, Eleni Panagiotakaki, Amelie Piton, Elise Schaefer, Julien Thevenon, Laurent Villard, Dorothee Ville, Gaetan Lesca
Summary: The EPIGENE network, consisting of geneticists, pediatric neurologists, and specialists in epileptology, aims to improve the diagnostic strategy for Mendelian epileptic disorders in France. Their gene panel approach has shown positive results, with a diagnostic yield of 31% for epileptic patients. Whole-genome sequencing is expected to be implemented as a second-line screening method in the near future, benefiting French patients with drug-resistant epilepsies.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Review
Pharmacology & Pharmacy
Yasmine Bachir, Alejandra Daruich, Couanon Marie, Matthieu P. Robert, Dominique Bremond-Gignac
Summary: Inherited epidermolysis bullosa is a rare genetic disease that causes blisters, erosions, and scars on the skin and mucous membranes. Ocular involvement is common and can result in irreversible damage.
Article
Genetics & Heredity
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P. P. Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Summary: Albinism is a genetic disorder caused by mutations in genes affecting melanin production or transport in the skin, hair, and eyes. At least 20 different genes have been identified to be involved in albinism. This study analyzed 30 OCA4 patients and found two main phenotypes, with a correlation between genotype and phenotype.
Article
Ophthalmology
Munirah Alafaleq, Lucie Sordello, Dominique Bremond-Gignac
Summary: This study aimed to investigate the frequency and types of strabismus in patients with congenital aniridia, as well as the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts. The results showed that strabismus is one of the clinical signs of congenital aniridia, and the laterality of congenital cataracts seems to affect the type of strabismus. Foveal hypoplasia has little impact on strabismus but is prevalent for nystagmus.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Annegret Dahlmann-Noor, Stefano Bonini, Dominique Bremond-Gignac, Steffen Heegaard, Andrea Leonardi, Jesus Montero, Eduardo D. Silva
Summary: The EUR-VKC Group has provided guidelines for the assessment, diagnosis, management, referral, and follow-up of VKC patients in order to improve outcomes. They emphasize the importance of timely diagnosis and treatment initiation, and suggest managing VKC according to disease severity.
OPHTHALMOLOGY AND THERAPY
(2023)
Article
Clinical Neurology
S. Neumane, A. Lesage, V. Dangouloff-Ros, R. Levy, C. -J. Roux, M. P. Robert, D. Bremond-Gignac, N. Boddaert
Summary: The study retrospectively reviewed the MR imaging of 27 children to describe the signal of common pediatric orbital lesions on arterial spin-labeling and evaluate its ability to discriminate malignant from benign masses. The arterial spin-labeling perfusion patterns were classified into homogeneous hypoperfusion, heterogeneous hyperperfusion, and homogeneous intense hyperperfusion. Arterial spin-labeling was found to be valuable in improving the diagnostic confidence of some orbital lesions.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Ophthalmology
Alexandre Dentel, Marco Ferrari, Matthieu P. Robert, Sophie Valleix, Dominique Bremond-Gignac, Alejandra Daruich
Summary: This study aimed to characterize foveal vasculature in patients with congenital aniridia using optical coherence tomography angiography (OCT-A). The results showed higher vessel density in the foveal area but lower vessel density in the parafoveal area in patients with aniridia. There was a positive correlation between the grading of foveal hypoplasia and foveal vessel density.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Genetics & Heredity
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frederic Bilan, Brigitte Gilbert-Dussardier, Busa Tiffany, Chantal Missirian, Marjolaine Willems, Sylvie Odent, Josette Lucas, Christele Dubourg, Elise Schaefer, Sophie Scheidecker, James Lespinasse, Alice Goldenberg, Anne-Marie Guerrot, Geraldine Joly-Helas, Pascal Chambon, Cedric Le Caignec, Albert David, Charles Coutton, Veronique Satre, Gaelle Vieville, Florence Amblard, Radu Harbuz, Damien Sanlaville, Marianne Till, Catherine Vincent-Delorme, Cindy Colson, Joris Andrieux, Sophie Naudion, Jerome Toutain, Caroline Rooryck-Thambo, Benedicte de Freminville, Fabienne Prieur, Valerie Cormier Daire, Daniel Amram, Pascale Kleinfinger, Matthias B. Schulze, Gisela Raabe-Meyer, Carolina Courage, Johannes Lemke, Eunice G. Stefanou, Thomaidis Loretta, Manolakos Emmanouil, Sophia Kitsiou Tzeli, Henryka Sodowska, Jasen Anderson, Adayapalam Nandini, Henri Copin, Loic Garcon, Thomas Liehr, Gilles Morin
Summary: Cat Eye Syndrome (CES) is a rare genetic disease with high clinical and genetic heterogeneity. This international retrospective study focuses on patients carrying genomic gain in the 22q11.21 chromosomal region and reveals that the typical clinical triad is only present in a minority of cases. Other impairments such as cardiac anomalies and intellectual disability are also common. The most frequent chromosomal anomaly observed is sSMC, which has a relatively high prevalence of parental transmission.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
