Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

Background: GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome is caused by aberrant expression of the GIP receptor in adrenal lesions. The bilateral nature of this disease suggests germline genetic predisposition. We aimed to identify the genetic driver event responsible for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome.

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.

Context: Outcomes of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) have been widely studied in children and women, but less so in men.

Objective: The objective was to analyze data from a network of metropolitan French teaching hospitals on the clinical outcome of classic 21OHD in a large sample of congenital adrenal hyperplasia/21OHD-genotyped adult men, and particularly the impact of 21OHD on the gonadotrope axis, testicular function, and fertility.

Methods: From April 2011 to June 2014, tertiary endocrinology departments provided data for 219 men with 21OHD (ages, 18-70 y; 73.

Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients.

Objectives: Several cases of testicular adrenal rest tumours have been reported in men with congenital adrenal hyperplasia (CAH) due to the classical form of 21-hydroxylase deficiency but the prevalence has not been established. The aims of this report were to evaluate the frequency of testicular adrenal rest tissue in this population in a retrospective multicentre study involving eight endocrinology centres, and to determine whether treatment or genetic background had an impact on the occurrence of adrenal rest tissue.

Material And Methods: Testicular adrenal rest tissue (TART) was sought clinically and with ultrasound examination in forty-five males with CAH due to the classical form of 21-hydroxylase deficiency.

Effects of an 8-week aerobic exercise training on saliva steroid hormones, physical capacity, and quality of life in diabetic obese men.

The purpose of the study was to assess the effects of aerobic exercise training on saliva steroid hormones [i. e., cortisol, dehydroepiandrosterone (DHEA), and testosterone], physical capacity, and quality of life in obese diabetic men.

Serum and saliva adrenocortical hormones in obese diabetic men during submaximal exercise.

The aim of this study was to evaluate serum and saliva adrenocortical hormones and their relationships at rest and during submaximal exercise and recovery in 9 obese diabetic middle-aged men (BMI: 35.2 ± 1.6 kg/m (2)).

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.

Context: AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and therapeutic features of AIPmut-associated pituitary adenomas have not been studied comprehensively.

Objective: The objective of the study was to assess clinical/therapeutic characteristics of AIPmut pituitary adenomas.

Thymic neuroendocrine tumors in multiple endocrine neoplasia type 1: a comparative study on 21 cases among a series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines).

Background: Thymic neuroendocrine tumors (Th-NET) present a poor prognosis for patients with multiple endocrine neoplasia type 1 (MEN1). The purpose of this article was to study the clinical, biological, and pathological features of Th-NET in a large cohort of patients with MEN1.

Methods: The 761-patient MEN1 cohort from the GTE registry was used (Groupe des Tumeurs Endocrines).

Preoperative US-guided hook-needle insertion in recurrent lymph nodes of papillary thyroid cancer: a help for the surgeon.

Objective: The objective of this study is to investigate whether preoperative ultrasound guided insertion of a hook-needle is useful in reoperations for cervical recurrent lymph node metastases of papillary thyroid cancer.

Patients And Methods: 8 patients with operated papillary thyroid cancer were included in this study. They all had suspicious nonpalpable cervical lymph nodes discovered during follow-up.

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

Context: An association between germline aryl hydrocarbon receptor-interacting protein (AIP) gene mutations and pituitary adenomas was recently shown.

Objective: The objective of the study was to assess the frequency of AIP gene mutations in a large cohort of patients with familial isolated pituitary adenoma (FIPA).

Design: This was a multicenter, international, collaborative study.

Clinical characterization of familial isolated pituitary adenomas.

Context: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC).

Objective: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA).

Design And Setting: We conducted a retrospective study of clinical and genealogical characteristics of FIPA cases and performed a comparison with a sporadic population at 22 university hospitals in Belgium, Italy, France, and The Netherlands.

In vivo and in vitro screening for illegitimate receptors in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome: identification of two cases of gonadotropin/gastric inhibitory polypeptide-dependent hypercortisolism.

In ACTH-independent macronodular adrenal hyperplasia (AIMAH) causing Cushing's syndrome, cortisol production can be controlled by illegitimate membrane receptors. The aim of the present study was to evaluate in vivo and in vitro the sensitivity of AIMAH to various regulatory factors to detect the expression of illegitimate receptors by the tissues. Four consecutive patients with AIMAH and hypercortisolism (H1-H4) preoperatively underwent a series of pharmacological and/or physiological tests.

[Duodenal somatostatinomas associated with von Recklinghausen's neurofibromatosis. Apropos of 2 cases].

Somatostatinomas are rare neuroendocrine tumors; they are essentially located in the pancreas and in the duodenum. The association with a neurofibromatosis type I is especially observed when the tumor is located in the ampulla of Vater. These tumors are not associated with a "somatostatin syndrome", but often present with gastrointestinal bleeding, abdominal pain and obstructive jaundice.

[Paresthetic notalgia and multiple endocrine neoplasia type 2a (Sipple's syndrome): 3 cases].

Introduction: Notalgia paresthetica is an isolated sensory mononeuropathy. Patients have a pruritus in the mid-upper back. Its association with multiple endocrine neoplasia type IIA has been reported in a few cases.

[Microscopic thyroid papillary cancers presenting as cervical lymph node metastases].

Microscopic papillary thyroid cancer (< 1 cm in diameter) is reputed to have an excellent prognosis. In 10 to 20% of cases, it presents in the form of lymph ode metastases. Immediately metastatic forms can be associated with unfavourable prognostic factors, such as multifocal tumours, extension to adjacent tissues, capsular effraction and development of distant metastases.

Cytotoxic therapy with etoposide and cisplatin in advanced adrenocortical carcinoma.

Adrenocortical carcinoma (ACC) is a rare tumour with a poor prognosis. Cisplatin is the most widely tested cytotoxic agent in this disease. A total of 18 patients with advanced ACC were enrolled.

Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome predisposing to tumors of the parathyroid, endocrine pancreas, anterior pituitary, adrenal glands, and diffuse neuroendocrine tissues. The MEN1 gene has been assigned, by linkage analysis and loss of heterozygosity, to chromosome 11q13 and recently has been identified by positional cloning. In this study, a total of 84 families and/or isolated patients with either MEN1 or MEN1-related inherited endocrine tumors were screened for MEN1 germ-line mutations, by heteroduplex and sequence analysis of the MEN1 gene-coding region and untranslated exon 1.

Iron overload in reticuloendothelial systems of pediatric oncology patients who have undergone transfusions: MR observations.

Objective: Pediatric oncology patients who undergo intensive chemotherapy develop anemia caused by myeloid suppression that necessitates transfusions that, in turn, cause iron deposition in the reticuloendothelial system. We describe MR imaging of iron overload in pediatric patients who underwent such chemotherapy and who have solid and hematologic tumors.

Materials And Methods: The MR appearance of the liver, spleen, and bone marrow was evaluated in 13 children with both solid (n = 10) and hematologic (n = 3) malignant lesions using known criteria for the presence of iron deposition.

[Mediastinal parathyroid adenomas on a 5th ectopic gland. 2 case reports].

Mediastinal parathyroid adenoma located on the 5th ectopic gland is rare. We report here two new cases diagnosed by scintigraphy. In one case the adenoma was found to be located in the mediastinum prior to cervicotomy.

[Influence of dose and modalities of administration of BIM 23014 on growth hormone secretion in patients with acromegaly].

Somatostatin analogs, with prolonged half-lives have been proposed for the treatment of acromegalics. The aim of the study was to evaluate the short term efficacy of different doses and modalities of administration of the new somatostatin analog, BIM 23014 (BIM), on GH secretion in acromegalics. Ten acromegalics, with evolutive disease, who previously had had transsphenoidal surgery (and pituitary radiotherapy in 8) were evaluated in a three step study.

[Polymyositis, dermatomyositis and pregnancy: high-risk pregnancy. A further case report and review of the literature].

The authors report a new case where polymyositis/dermatomyositis and pregnancy were associated. The polymyositis and dermatomyositis appeared in the last third of the pregnancy. A caesarean operation had to be performed for fetal distress after 37 weeks of amenorrhoea.