Explanipedia

A novel variant in the 5’ UTR of the androgen receptor gene without coding region alterations in three patients with complete androgen insensitivity syndrome Open

Guillaume Perez, Patrick Balaguer, F. Albarel, Florence Compain, Nicolas Kalfa , et al. · 2025

A syndrome-causing androgen receptor ( AR) gene variant is identified in > 95% of 46,XY individuals with a female phenotype due to complete androgen insensitivity syndrome (CAIS). Here, we describe three patients (two adults, 37 and 32 yea…

Sucessful Transition in Rare Endocrine Diseases: Patient Experiences in a French Reference Centre Open

Karine Aouchiche, Thierry Brue, E. Marquant, G. Simonin, Sarah Castets , et al. · 2025

Objective This study aimed to evaluate the experiences of patients who had a joint endocrinology consultation for transition to adult care at Marseille university hospitals between 2010 and 2020, focusing on patient follow‐up, satisfaction…

PFMG2025–integrating genomic medicine into the national healthcare system in France Open

Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel, O. Ackermann , et al. · 2025

Plasma Renin: A Useful Marker for Mineralocorticoid Adjustment in Patients With Primary Adrenal Insufficiency Open

Cécilia Piazzola, B. Dreves, F. Albarel, J. Nakache, J. Morera , et al. · 2024

Context Renin is a marker of blood volume. There is no consensus on the validity of plasma renin measurement for adjusting mineralocorticoid (MC) substitution in patients with primary adrenal insufficiency (PAI). Objective This work aimed …

Deciphering the Presentation and Etiologies of Hypophysitis Highlights the Need for Repeated Systematical Investigation Open

Laura Miquel, Benoît Testud, F. Albarel, Nicolas Sahakian, Thomas Cuny , et al. · 2024

Context Hypophysitis is defined as an inflammation of the pituitary gland and/or infundibulum. Objective Our aim was to characterize the initial course and evolution of patients with hypophysitis according to the different etiologies. Meth…

Diagnosis and management of children and adult craniopharyngiomas: A French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement Open

Thomas Cuny, Rachel Reynaud, Gérald Raverot, R. Coutant, Philippe Chanson , et al. · 2024

International audience

Changes in multi-modality management of acromegaly in a tertiary centre over 2 decades Open

Vincent Amodru, Nicolas Sahakian, C. Piazzola, Romain Appay, Thomas Graillon , et al. · 2024

Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP) Open

Sarah Castets, F. Albarel, Anne Bachelot, Gilles Brun, Jérôme Bouligand , et al. · 2024

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network Open

H. Rahabi, Maria Givony, Béatrice Demaret, F. Albarel, Marie-Reine Aubron , et al. · 2023

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man Open

Hironori Bando, Michelle L. Brinkmeier, Frederic Castinetti, Qing Fang, Mi‐Sun Lee , et al. · 2022

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable holoprosencephaly in humans and mice. We identified t…

Preoperative Medical Treatment for Patients With Acromegaly: Yes or No? Open

F. Albarel, Thomas Cuny, Thomas Graillon, Henry Dufour, Thierry Brue , et al. · 2022

Transsphenoidal surgery is the first-line treatment for acromegaly. However, several factors can modify surgical remission rates, such as the initial hormone levels, the size and invasiveness of the tumor, and the degree of experience of t…

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) Open

Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara‐Boustani, Muriel Houang , et al. · 2022

Acromegaly in remission: a view from the partner Open

Rachel Fourneaux, M. Vermalle, F. Albarel, Isabelle Morange, Thomas Graillon , et al. · 2021

Objective A relative can be an asset in dealing with chronic illnesses, such as acromegaly, where quality of life (QoL) is altered even after remission. However, it has been shown that quality of life of caregivers can also be impacted. Ou…

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency Open

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh-Lippold , et al. · 2021

Meningiomas in patients with long-term exposition to progestins: Characteristics and outcome Open

Thomas Graillon, Sébastien Boissonneau, Romain Appay, Mohamed Boucékine, Hélène Peyriere , et al. · 2021

High-throughput splicing assays identify missense and silent splice-disruptive<i>POU1F1</i>variants underlying pituitary hormone deficiency Open

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh-Lippold , et al. · 2021

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense va…

ESE audit on management of adult growth hormone deficiency in clinical practice Open

Luciana Martel‐Duguech, Jens Otto Lunde Jørgensen, Márta Korbonits, Gudmundur Johannsson, Susan M. Webb , et al. · 2020

Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform. Aims (1) To record current practice of AGHD management throughout Euro…

Women's perceptions of femininity after craniopharyngioma: a qualitative study Open

Raphaëlle Eydoux, Frédéric Castinetti, Magali Authier, Manon Vialle, F. Albarel , et al. · 2020

Background Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues related to patient intimacy have not yet…

Evaluation of an individualized education program in pituitary diseases: a pilot study Open

F. Albarel, Isabelle Pellegrini, H. Rahabi, C. Baccou, Lucile Gonin , et al. · 2020

Introduction The low prevalence of pituitary diseases makes patient autonomy crucial, and self-management programs should be more common. Objectives To assess the efficacy of an education program for patients with pituitary diseases in ter…

Germinal defects of SDHx genes in patients with isolated pituitary adenoma Open

Grégory Mougel, Arnaud Lagarde, F. Albarel, Wassim Essamet, Perrine Luigi , et al. · 2020

Background: The ‘3PAs’ syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in PPGL-predisposing genes, such as SDHx or MAX . In ’3PAs’ syndrome, PAs can occur befor…

Efficacy and safety of dopamine agonists in patients treated with antipsychotics and presenting a macroprolactinoma Open

Lucie Allard, F. Albarel, Jérôme Bertherat, Philippe Caron, Christine Cortet , et al. · 2020

Context In patients treated with antipsychotics, the rare occurrence of a macroprolactinoma represents a therapeutic challenge. Objective Our aim was to evaluate the efficacy and psychiatric safety of dopamine agonists (DAs) prescribed for…

Surgical indications for pituitary tumors during pregnancy: a literature review Open

Thomas Graillon, Thomas Cuny, Frédéric Castinetti, Blandine Courbière, Marie Cousin , et al. · 2019

Functioning gonadotroph adenoma with severe ovarian hyperstimulation syndrome: A new emergency in pituitary adenoma surgery? Surgical considerations and literature review Open

Thomas Graillon, Frédéric Castinetti, Véronique Chabert-Orsini, Isabelle Morange, Thomas Cuny , et al. · 2019

French Endocrine Society Guidance on endocrine side effects of immunotherapy Open

Frédéric Castinetti, F. Albarel, F. Archambeaud, Jérôme Bertherat, Benjamin Bouillet , et al. · 2018

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPIs). However, the use of ICPI has a risk of side effects, particularly endocrine toxicity. Since the indications fo…

Daily life, needs and expectations of patients with acromegaly in France: An on-line survey Open

F. Albarel, Fatine Elaraki, Brigitte Delemer · 2018

Increased Risk of Persistent Glucose Disorders After Control of Acromegaly Open

C. Rochette, Thomas Graillon, F. Albarel, Isabelle Morange, Henry Dufour , et al. · 2017

The follow-up of glucose disorders needs to be maintained on a long-term basis in patients controlled for acromegaly.

Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report Open

F. Albarel, Jeanne Perrin, Margaux Jegaden, Florence Roucher‐Boulez, Rachel Reynaud , et al. · 2016

Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected individuals. To date, only two pregnancie…

Prevalence of<i>KISS1 Receptor</i>mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study Open

Bruno Francou, Charlotte Paul, Larbi Amazit, A. Cartes, Claire Bouvattier , et al. · 2016

This work was supported in part by grants from Paris-Sud University (Bonus Qualité Recherche, and Attractivité grants) to J.B., French Ministry of Health, Hospital Clinical Research Program on Rare Diseases. Assistance Publique Hôpitaux de…

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome Open

Valérie Bernard, Bruno Donadille, Delphine Zénaty, Carine Courtillot, Sylvie Salenave , et al. · 2016

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