Endocrine Abstracts

In recent years, immunotherapy has transformed the treatment in a number of cancers, including melanoma. It is associated with novel autoimmune side effects including endocrinopathies, among which hypophysitis (0.4–20% with Ipilimumab). We carried out a long-term study in endocrinology and dermatology departments of Marseille to characterise ipilimumab-induced hypophysitis in terms of clinical signs, endocrine profile and imaging, at diagnosis and during follow-up. Fiftee...

Congenital lipoid adrenal hyperplasia (CLAH) is a severe disorder characterized by early impairment of both adrenal and gonadal steroidogenesis, leading to early adrenal failure and male sex reversal. The most common aetiology of CLAH is mutation of Steroidogenic acute regulatory protein (StAR) gene.Objective: We report evolution over 20 years of a 46XX patient harbouring a novel StAR gene mutation.Methods: Clinical, hormonal and i...

Context: Following the recent evolution in therapeutic strategies for GH-secreting pituitary adenomas, determining optimal individualized patient management is now crucial.Objective: To determine whether pre-surgical medical treatment (PSMT) in patients with acromegaly improves surgical outcome and to specify thresholds for such a strategy.Methods and design: This retrospective study included 110 newly diagnosed acromegalic patient...

Objective: To analyze characteristics of patients who had surgery for a GH-secreting adenoma in the past decade in our centre, to evaluate their initial outcome and long-term recurrence rate using stringent criteria and identify potential predictive factors of surgical remission.Methods: This retrospective study included 115 consecutive patients with acromegaly operated at the neurosurgical department of the Timone Hospital Marseille between 1997 and 200...

Aim of the studyA relative can be an asset in dealing with chronic illnesses such as acromegaly where quality of life 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 explore the consequences of acromegaly in remission in the patient-relative dyad in a matter of quality of life and self-esteem.MethodsIn this French m...

Dopamine agonists (DAs), used as first line therapy in patients with macroprolactinomas, and antipsychotics have opposite effects on dopamine receptors (D2R). In patients with severe psychiatric conditions treated with antipsychotics, the rare occurrence of a macroprolactinoma, particularly with optic chiasm compression, represents a therapeutic challenge. Indeed, on one hand, antipsychotics by their antagonistic effect on D2R, could decrease or even abolish the effects of DAs...

Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH decapeptide sequence. This mutation was identified in a CpG islet in nine nCHH subjects from four unrelated families, giving evidence for a putative ‘hot spot&#...