Fuller Albright (1900-1969): the scientist and the patient behind the syndrome

Dans les années soixante, pendant son tour de salle au Massachusets General Hospital, le psychiatre Dr Paul McHugh, donne cours à ses étudiants. Il leur explique que même un patient apathique avec une maladie mentale avancée peut parfois donner une réponse cohérente. C’est une preuve de l’éveil de sa conscience, leur dit-il . Il interpelle alors un patient alité, et lui demande: «Dr A, comment est la calcémie dans la pseudo pseudo-hypoparathyroïdie?». À la grande surprise des étudiants, le patient marmonne les yeux fermés et d’une voix monocorde: «la calcémie est dans les normes» . Le patient est le célèbre Dr Fuller Albright (1900-1969), l’un des endocrinologues et chercheurs américains les plus éminents du XXe siècle. Il est atteint d’une maladie de Parkinson très avancée et invalidante. Les premiers symptômes se sont déclarés dès sa quarantaine. Son histoire et la portée étonnante et actuelle de ses recherches sont pourtant exemplaires: nous les retraçons brièvement dans cette synthèse (1-4)In the sixties, during his tour of the room at Massachusets General Hospital, psychiatrist Dr. Paul McHugh, gives lessons to his students. He explains to them that even an apathetic patient with advanced mental illness can sometimes give a consistent response. It is a proof of the awakening of his consciousness, he tells them. He then calls out to a bedridden patient, and asks: "Dr. A, how is serum calcium in pseudo-hypoparathyroidism?" To the students' surprise, the patient mutters with his eyes closed and in a monochord voice: "serum calcium is in the norms". The patient is the famous Dr. Fuller Albright (1900-1969), one of the most prominent American endocrinologists and researchers of the twentieth century. He suffered from a very advanced and disabling Parkinson's disease. The first symptoms began as early as he was in his forties. His history and the astonishing and current scope of his research are nevertheless exemplary: we briefly trace them in this paper

Abstracts presented at the 27th Annual Congress of the Belgian Society of Internal Medicine, 1-2 December 2023, Dolce La Hulpe, La Hulpe, Belgium

peer reviewedIntroduction: The term pseudohypoparathyroidism was introduced in 1942 by Albright et al. to describe several patients presenting hypocalcemia and hyperphosphatemia in association with short stature, short metacarpals and metatarsals, obesity as well as neurocognitive impairment (1). These findings are now referred as Albright’s hereditary osteodystrophy (AHO). Autoimmune polyendocrinopathy is characterized by autoimmune activity against more than one endocrine organ. We herein present a family (the mother and the daughter) affected with AHO and autoimmune polyendocrinopathy features. We show some preliminary genetic studies. Case reports: The index case is a 69 years old woman (patient A) , measuring 1m 47 and weighting 58 kg. She was diagnosed with Hashimoto Thyroiditis in 1982 and Biermer disease in 1982 (autoimmune polyendocrinopathy type 3, see table 1). Because of muscle cramps, biological investigation revealed in 2010: serum calcium: 2.10 mmol/L (2.15-2.6), phosphates: 1.08 mmol/L (0.74-1.51), PTH: 187 pg/ml, 25 vitD: 35 ng/ml (>20 ), IGF1: 114 ng/ml (32-226), GH: 0.7 ng/ml. In 2018, AHO was suspected on the basis of hypocalcemia, short stature and bilateral short 4th and 5th metacarpals and phalanges. Osteodensitometry was normal. GNAS gene sequencing identified a novel heterozygous variant c.970 56GT>T (class III). In silico analysis predict splicing defects. Her daughter (Patient B) is 47 years old, measures 1m45 and weights 41 kg. She was diagnosed with Hashimoto Thyroiditis in 1989. Biological investigations revealed: serum calcium: 2.10 mmol/L (2.15-2.6), phosphates: 1.2 mmol/L (0.74-1.51), PTH: 131 pg/ml, 25 vitD: 24 ng/ml (>20 ). She presented Raynaud’s phenomenon and cryoglobulinemia in 2022. Because of short stature, brain calcifications, and bilateral short 4th and 5th metacarpals, autosomal dominant AHO is also suspected. Genetic analysis is ongoing. Conclusion: AHO is caused by mutations and/or epigenetic changes at the complex of GNAS locus on chromosome 20q13.3. It is an underdiagnosed cause of paresthesias and Fahr’s disease. Heterozygous maternal GNAS mutations cause variable degrees of PTH resistant hypocalcemia. Reduced Gsa activity may result in loss of endocrine function, and can develop resistance to other hormones including TSH, GH, gonadotropins, and calcitonin. The combination of AHO and autoimmune polyendocrinopathies is very rar

Hormonal deficiencies in the elderly: Is there a place for a replacement therapy?

Biological aging is characterized by a progressive loss of the secretion of various hormones, a phenomenon that leads some physicians to propose an anti-aging hormonal therapy. It is mandatory to differentiate: 1) the physiological functional loss, which is a natural phenomenon without clear deleterious consequences on health and should not be compensated by the administration of hormones only to restore plasma levels similar to those measured in young people and 2) a pathological defect that deserves a replacement therapy to correct the endocrine deficiency and improve the health status of older individuals. This article considers the deficiencies in insulin, thyroid hormones, growth hormone, dehydroepiandrosterone (DHEA) and testosterone. For each hormone, a benefit/risk ratio of a so-called replacement therapy will be analyzed.Le vieillissement biologique se caractérise par une perte progressive de la sécrétion de différentes hormones, ce qui a conduit certains médecins à proposer une hormonothérapi anti-âge. Il est essentiel de faire la distinction entre : 1) une perte fonctionnelle physiologique, phénomène naturel qui n'a pas nécessairement de répercussions sur la santé et ne doit pas être compensée par l'administration d'hormones dans le seul but de rétablir un taux comparable à celui mesuré chez les sujets jeunes et 2) une défaillance pathologique qui mérite un traitement supplétif pour corriger la carence hormonale et améliorer l'état de santé de la personne âgée. Cet article envisage les carences en insuline, en hormone thyroïdienne, en hormone de croissance, en déhydroépiandrostérone et en testostérone. Pour chaque hormone, la balance bénéfices/risques d'une éventuelle administration à visée correctrice sera analysée

Secondary forms of diabetes mellitus associated with endocrine diseases

peer reviewedDiabetes mellitus may occur in association with endocrine disorders and is termed "other causes of diabetes" by the American Diabetes Association. Hyperglycaemia results from sustained excessive hormonal secretion, which alters insulin secretion or action. It is characterized by the absence of ketosis because of the persistence of endogenous insulin secretion. Diabetes is usually reversible with successful treatment of the underlying endocrine disorder and the correction of hormonal overproduction. Most important endocrine diseases associated with diabetes mellitus are briefly described and the underlying mechanisms of glucose abnormalities are discussed.Dans sa classification du diabète sucré, l'American Diabetes Association place les diabètes secondaires à une endocrinopathie dans le groupe des «autres types spécifiques de diabète». Les troubles glycémiques sont la conséquence directe ou indirecte des effets métaboliques liés à l'excès de production hormonale, et peuvent revêtir une importance plus ou moins variable (de l'intolérance au glucose au diabète authentique). L'acidocétose est exceptionnelle et est alors le témoin d'une atteinte de la régulation glycémique pré-existante. Le diabète est généralement réversible avec le traitement efficace de la pathologie endocrinienne sous-jacente et la correction de l'hypersécrétion hormonale. Dans cet article, nous allons reprendre de façon succincte les principales affections endocriniennes impliquées et tenter d'expliquer les différents mécanismes physiopathologiques susceptibles d'expliquer le diabète associé

Skin tensile properties in patients treated for acromegaly.

BACKGROUND: Somatotropic effects are described in the skin. Indeed, acromegaly is in part clinically recognized by cutaneous coarsening. The actual changes in tensile properties associated with the cutaneous manifestations are largely unknown. OBJECTIVES: To study the relationships between the skin tensile properties and the severity of acromegaly as assessed by serum levels of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). PATIENTS AND METHOD: Assessments were made in 13 patients with acromegaly treated by somatostatin agonists combined or not with surgery. A total of 39 age- and sex-matched healthy subjects served as controls. Skin tensile properties were measured on the forearm and nape of the neck using a computerized suction device. RESULTS: Significant differences were yielded between the skin tensile properties in patients and normal subjects. The highest IGF-1 values in the patients' medical records were positively correlated with both skin distensibility and biologic elasticity. The most recent IGF-1 serum levels were negatively correlated with the visco-elastic ratio. No correlations were yielded between any of the biomechanical parameters and GH levels, disease duration and treatment dosages, respectively. CONCLUSION: The skin in acromegaly appears to be functionally more redundant and elastic than normal skin. The biomechanical changes appear quite different from those observed in other diseases with collagen deposition such as diabetes mellitus and scleroderma

L'amiodarone et la thyroïde

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Inflammatory diseases of the pituitary during pregnancy

Well-known pituitary inflammatory diseases (sarcoidosis, Wegener granulomatosis, Langerhans and non-Langerhans histiocytosis, inflammatory pseudotumors) may occur during pregnancy or apart from it. Moreover, some inflammatory diseases, such as lymphocytic hypophysitis occur most of the time during pregnancy. In this chapter, we shall consider these different pathologies as well as the specific treatment of lymphocytic hypophysitis.Les maladies dysimmunes classiquement rapportées au niveau de l'hypophyse (sarcoïdose, granulomatose de Wegener, histiocytoses Langerhansiennes et non-Langerhansiennes, pseudotumeurs inflammatoires) peuvent survenir au cours de la grossesse comme en dehors de celle-ci. De surcroît, certaines maladies inflammatoires, comme l'hypophysite lymphocytaire, affectent préférentiellement la femme enceinte. Dans ce chapitre, nous envisagerons brièvement ces diverses pathologies ainsi que la prise en charge thérapeutique de l'hypophysite lymphocytaire durant la période délicate que constitue la grossesse

L'image du mois : une parathyroïde ectopique

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