Publications by authors named "Frederique Albarel"

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 to investigate if plasma renin could be used to adjust MC substitution in patients with PAI.

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

Patients And Methods: Retrospective observational study conducted in a universitary referral hospital center.

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Article Synopsis
  • * The French Endocrine Society and associated organizations created a reference document to address the complexities of managing these tumors, which can recur and lead to serious health issues, including impaired quality of life for patients, especially those with hypothalamic syndrome.
  • * Recent research has identified two tumor types—papillary and adamantinomatous—with different molecular signatures and treatment strategies, prompting ongoing developments in therapeutic options, including new medications for associated symptoms like hyperphagia.
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Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency (formerly known as diabetes insipidus). In adult patients, it is usually acquired (notably during childhood), but can also be congenital, due to abnormal pituitary development.

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The SFE-AFCE-SFMN 2022 consensus deals with the management of thyroid nodules, a symptom that is a frequent reason for consultation in endocrinology. Thyroid nodules are very common and mostly benign. Thyroid ultrasound and thyroid fine-needle aspiration biopsy (FNAB) are the reference tests for the analysis of these nodules.

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Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step in the management of severe conditions such as rare endocrine diseases. Little is known of how diagnosis is communicated to patients and families. The FIRENDO network was created by the third French Plan for Rare Diseases, to promote autonomy, care and research on rare endocrine diseases.

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  • * The condition is characterized by specific symptoms related to a pituitary tumor, such as headaches and joint pain, and can lead to various complications including cardiovascular and metabolic issues.
  • * Diagnosis involves elevated IGF-I levels and imaging to identify the pituitary tumor; treatment typically starts with surgery, but medication and radiation may be necessary for some patients, and care is best administered by a specialized multidisciplinary team.
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Over the past decade, the development of ICI (immune checkpoint inhibitors) has constituted a revolution in the treatment of many cancers, but with a specific toxicity profile including endocrine IRAEs (immune-related adverse events). As the indications for these molecules are constantly increasing due to their efficacy, it is important that endocrinologists and oncologists know how to detect, manage and monitor this type of toxicity. Many guidelines and recommendations have been proposed in the last few years for the management of endocrinopathies.

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  • Gonadectomy is advised for patients with Turner syndrome (TS) and 45,X/46,XY karyotype due to the risk of gonadoblastoma (GB), but the evidence supporting this recommendation is weak.
  • This study aimed to analyze the prevalence and characteristics of GB linked to different types of Y chromosomal material in affected patients.
  • Findings revealed a 12.8% prevalence of GB among 70 patients studied, with complete Y chromosome presence identified as a significant risk factor, suggesting the need for earlier gonadectomy in these cases.*
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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 the surgeon. Physicians treating patients with acromegaly should thus consider how to improve surgical remission rates.

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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 two children with neonatal hypopituitarism and thin pituitary stalk who were doubly heterozygous for rare, likely deleterious variants in the transcription factors SIX3 and POU1F1.

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Article Synopsis
  • - Turner syndrome (TS) is a rare genetic condition affecting about 1 in 2,500 liveborn girls, characterized by the absence of all or part of an X chromosome, with common karyotypes being 45,X and 45,X/46,XX mosaic.
  • - The French National Diagnosis and Care Protocol (PNDS) aims to guide healthcare professionals in managing TS, providing insights based on expert consensus and literature review from the French National Reference Center for Rare Growth and Developmental Endocrine disorders.
  • - TS can lead to several health issues, including growth retardation, gonadal dysgenesis, and increased risk of various congenital and acquired diseases, necessitating a collaborative approach among healthcare providers for effective patient
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Introduction: Persistent growth hormone hypersecretion can be observed in roughly 50% of patients operated for somatotroph adenomas, requiring additional treatments. Despite its proven antisecretory efficacy, the use of Gamma Knife radiosurgery (GK) is limited probably due to the lack of data on long-term side effects, including potential cognitive consequences.

Methods: The LATe Effects of Radiosurgery in Acromegaly study was a cross-sectional exposed/unexposed non-randomized study.

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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. Our main objective was to compare the perception of acromegaly in remission in the patient-relative dyad.

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  • Premature ovarian insufficiency (POI) is a condition that affects some women under 40, causing their ovaries to not work properly.
  • The cause of POI can be from different reasons, like genetics or medical treatments, but in many cases, it is unknown.
  • Women with POI may not have their periods and their hormone levels are off, but sometimes they can still get pregnant and may need hormone therapy until they're about 51 years old.
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Background: Elevated plasma concentrations of hepatic- and intestinally-derived triglyceride-rich lipoproteins (TRL) are implicated in the pathogenesis of atherosclerotic cardiovascular disease and all-cause mortality. Excess of TRL is the driving cause of atherogenic dyslipidemia commonly occurring in insulin-resistant individuals such as patients with obesity, type 2 diabetes and metabolic syndrome. Interestingly, growth hormone (GH)-deficient individuals display similar atherogenic dyslipidemia, suggesting an important role of GH and GH deficiency in the regulation of TRL metabolism.

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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 variants in unrelated individuals with hypopituitarism that were predicted to affect a minor isoform, POU1F1 beta, which can act as a transcriptional repressor.

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First-line treatment of prolactinoma is usually medical, based on dopamine agonists receptors, mainly cabergoline. The classical side-effects of cabergoline (low blood pressure and nausea) have been well known since it was first introduced. Other side-effects, however, are more controversial or simply less frequent, but need to be considered during monitoring.

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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 been addressed. Standardized questionnaires limit the approach to sexuality and the exploration of patient experiences.

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  • The '3PAs' syndrome is a condition where patients have pituitary adenomas and sometimes pheochromocytomas, which are types of tumors, and this could be linked to certain gene mutations.
  • Researchers studied 263 patients with pituitary adenomas to find out how common these gene mutations are and what type of adenomas they have.
  • They found a few gene mutations in some patients and recommended testing for these mutations, especially if the person has a family history of tumors or specific signs in their adenomas.
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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 large macroprolactinomas in patients with psychosis treated with antipsychotics.

Design: This was a multicenter (France and Belgium) retrospective study.

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Objective: The aim of this study was to describe endocrinological outcome in patients operated on for acromegaly.

Methods: A retrospective study included 167 patients. Patients were assessed in the early postoperative period (EPP), at 3 months (M3), at 1 year (Y1), and then annually.

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Purpose: Surgical indications for pituitary tumors during pregnancy are rare, and are derived from a balance between expected benefits, particularly for maternal benefits, and anesthetic/surgical risks.

Methods: A literature review was performed to define the optimal surgical indications for pituitary adenomas (PA) and other pituitary tumors during pregnancy.

Results: Main benefits are expected in case of critical visual impairment and/or life-threatening endocrine disturbances.

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In recent years, the development of immunotherapy has constituted a revolution in the therapy for many cancers, with a specific toxicity profile including endocrine immune-related adverse events. Immune check point inhibitors (ICI)-induced hypophysitis is a common endocrine side effect, particularly with CTLA-4 antibodies and combination therapy, with frequent hormonal deficiencies at diagnosis. It can be difficult to evoke such diagnosis as the initial clinical symptoms are not specific (headache, asthenia…); thus, patients receiving such immunomodulatory therapies should be closely monitored by systematic hormone measurements, especially in the first weeks of treatment.

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The authors reported 2 cases of functioning gonadotroph pituitary adenoma (FGPA) revealed by an ovarian hyperstimulation syndrome (OHSS) in young women. In the first case, OHSS was observed after GnRH analog injection. Pelvic echography revealed multiple voluminous ovarian cysts.

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