Misrepresented multiple endocrine neoplasia 2: Do the British Thyroid Association guidelines accurately predict thyroid cancer risk in high-risk groups with multiple endocrine neoplasia 2? A case series.

Introduction: The incidence of thyroid nodules in the general population is around 40%. The British Thyroid Association U-grading has high sensitivity for identifying the common thyroid cancer subtypes (papillary and follicular). However, ultrasound features of the rarer medullary thyroid cancer differ, with lower sensitivity for ultrasound detection.

Bariatric surgery for patients with type 2 diabetes mellitus requiring insulin: Clinical outcome and cost-effectiveness analyses.

Background: Although bariatric surgery is well established as an effective treatment for patients with obesity and type 2 diabetes mellitus (T2DM), there exists reluctance to increase its availability for patients with severe T2DM. The aims of this study were to examine the impact of bariatric surgery on T2DM resolution in patients with obesity and T2DM requiring insulin (T2DM-Ins) using data from a national database and to develop a health economic model to evaluate the cost-effectiveness of surgery in this cohort when compared to best medical treatment (BMT).

Methods And Findings: Clinical data from the National Bariatric Surgical Registry (NBSR), a comprehensive database of bariatric surgery in the United Kingdom, were extracted to analyse outcomes of patients with obesity and T2DM-Ins who underwent primary bariatric surgery between 2009 and 2017.

Gastrointestinal symptoms in acromegaly: A case control study.

Background: Acromegaly is a chronic disease caused by a pituitary somatotroph adenoma resulting in excess secretion of growth hormone, which leads to excess secretion of Insulin like growth factor 1 from the liver, causing abnormal soft tissue growth. There is increasing awareness that diseases affecting connective tissue are associated with an increase in functional gastrointestinal symptoms. Data was collected from patients with a confirmed diagnosis of acromegaly to evaluate the intensity, variety and impact of abdominal symptoms in comparison with a control group who were healthy participants recruited from the local fracture clinic.

PET-guided repeat transsphenoidal surgery for previously deemed unresectable lateral disease in acromegaly.

Objective: The object of this study was to determine if revision transsphenoidal surgery (TSS), guided by 11C-methionine PET/CT coregistered with volumetric MRI (Met-PET/MRCR), can lead to remission in patients with persistent acromegaly due to a postoperative lateral disease remnant.

Methods: The authors identified 9 patients with persistent acromegaly following primary intervention (TSS ± medical therapy ± radiotherapy) in whom further surgery had initially been discounted because of equivocal MRI findings with suspected lateral sellar and/or parasellar disease (cases with clear Knosp grade 4 disease were excluded). All patients underwent Met-PET/MRCR.

The regulation and signalling of anti-Müllerian hormone in human granulosa cells: relevance to polycystic ovary syndrome.

Study Question: What prevents the fall in anti-Müllerian hormone (AMH) levels in polycystic ovary syndrome (PCOS) and what are the consequences of this for follicle progression in these ovaries?

Summary Answer: Exposure of granulosa cells (GCs) to high levels of androgens, equivalent to that found in PCOS, prevented the fall in AMH and was associated with dysregulated AMH-SMAD signalling leading to stalled follicle progression in PCOS.

What Is Known Already: In normal ovaries, AMH exerts an inhibitory role on antral follicle development and a fall in AMH levels is a prerequisite for ovulation. Levels of AMH are high in PCOS, contributing to the dysregulated follicle growth that is a common cause of anovulatory infertility in these women.

An unusual cause of gynaecomastia in a male.

Summary: Beta-human chorionic gonadotropin (βhCG) is normally produced by syncytiotrophoblasts of the placenta during pregnancy and aids embryo implantation. However, it is also secreted in varying amounts in non-pregnant conditions commonly heralding a neoplastic process. We present a case of 50-year-old man, who presented with bilateral gynaecomastia with elevated testosterone, oestradiol, suppressed gonadotropins with progressively increasing levels of human chorionic gonadotropin (hCG).

Diagnosis and Management of Hereditary Thyroid Cancer.

Thyroid cancers are largely divided into medullary (MTC) and non-medullary (NMTC) cancers , depending on the cell type of origin. Familial non-medullary thyroid cancer (FNMTC) comprises about 5-15% of NMTC and is a heterogeneous group of diseases, including both non-syndromic and syndromic forms. Non-syndromic FNMTC tends to manifest papillary thyroid carcinoma , usually multifocal and bilateral .

Maternally inherited diabetes and deafness (MIDD): diagnosis and management.

Maternally inherited diabetes with deafness is rare diabetes caused by a mitochondrial DNA defect. 85% of cases are associated with m.3243A>G mutation.

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Context: Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, respectively. Loss-of-function mutations of adaptor protein-2 sigma subunit (AP2σ 2), encoded by AP2S1, cause FHH3, and we therefore sought for gain-of-function AP2S1 mutations that may cause an additional form of ADH, which we designated ADH3.

Objective: The objective of the study was to investigate the hypothesis that gain-of-function AP2S1 mutations may cause ADH3.

A Novel Medical Treatment of Cushing's Due to Ectopic ACTH in a Patient With Neurofibromatosis Type 1.

A 64-year-old male presented with neurofibromatosis 1 and Cushing's syndrome. Clinically he was over weight, depressed with extensive skin bruising and hypertension. His 24 hours urinary metanephrines, urinary 5HIAA, gut peptides and chromgranin levels were normal.

Glucose homeostasis, obesity and diabetes.

Plasma glucose levels are maintained within a narrow range in normal individuals. Both insulin-dependent and insulin-independent processes contribute to fasting and postprandial plasma glucose regulation. The brain and nervous system are insulin independent.

Aromatase expression in abdominal omental/visceral and subcutaneous fat depots: a comparison of pregnant and obese women.

Objective: To investigate total and promoter expression of aromatase in subcutaneous and omental (visceral) fat and compare this expression in pregnant and obese women.

Design: Cross-sectional study.

Setting: Academic hospital.

Clinicoradiological manifestations of paraganglioma syndromes associated with succinyl dehydrogenase enzyme mutation.

BACKGROUND: Paragangliomas are rare tumours derived from the autonomic nervous system that have increasingly been recognised to have a genetic predisposition. Mutations of the enzyme succinyl dehydrogenase (SDH) have proven to result in paraganglioma formation. There are four subunits (A through D) that form the enzyme complex and are associated with different genophenotypic expressions of disease.

Radiologic appearance of hereditary adrenal and extraadrenal paraganglioma.

Objective: There is a wide spectrum of established and emerging genetic mutations associated with intraadrenal and extraadrenal paragangliomas. In this review, we present the typical radiologic patterns of disease associated with six well-characterized genetic mutations and discuss other inherited and nonfamilial syndromes currently under characterization.

Conclusion: Contrary to previous understanding, recent genotype advances suggest that the majority of paragangliomas may be genetically predisposed.

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t(X;autosome) were genetically analyzed.

Evaluation of central serotonin sensitivity in breast cancer survivors with cancer-related fatigue syndrome.

Context: Increased central serotonin sensitivity is hypothesized to contribute toward the development of cancer-related fatigue syndrome (CRFS).

Objectives: To compare the responses of breast cancer survivors with or without CRFS to the buspirone challenge test (an index of central serotonin sensitivity).

Methods: Disease-free women who had successfully completed treatment for early-stage breast cancer were assessed.

Tenofovir-linked hyperparathyroidism is independently associated with the presence of vitamin D deficiency.

Background: To determine patient and treatment characteristics associated with vitamin D deficiency (VDD) in an UK inner city HIV-1-positive adult cohort.

Methods: Two hundred twenty-seven HIV-positive patients attending prospectively for routine blood tests in winter had serum 25-hydroxyvitamin D and parathyroid hormone (PTH) concentrations and other routine chemistry measured. Those with and without VDD were defined as having serum 25-hydroxyvitamin D concentrations <50 nmol/L and >75 nmol/L, respectively.

Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.

Carney triad is a usually sporadic association of pulmonary chondroma, gastrointestinal stromal tumours, and paraganglioma. The majority of patients have two of these tumours, the gastric and pulmonary tumours being the most common combination. Carney Stratakis syndrome is an association of familial paraganglioma and gastric stromal sarcoma and it is considered to be a distinct condition from Carney triad as it is dominantly inherited and not associated with pulmonary chondroma.

Large genomic deletions in AIP in pituitary adenoma predisposition.

Context: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings.

Objective: Our objective was to evaluate the possible contribution of large genomic germline AIP deletions, an important mutation type in tumor predisposition syndromes, in PAP.

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

Context: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients.

Objective: Our objective was to evaluate the role of CDKN1B/p27(Kip1) in human tumor predisposition in patients clinically suspected of MEN1 but testing negative for MEN1 germline mutation as well as in familial and sporadic acromegaly/pituitary adenoma patients.

IVF/ICSI in a woman with active acromegaly: successful outcome following treatment with pegvisomant.

A 29 year old woman with difficult to control acromegaly and a pituitary macroadenoma responded to pegvisomant therapy and subsequently conceived with her first cycle of in-vitro fertilization and intra-cytoplasmic sperm injection. Pregnancy was complicated by gestational diabetes, pituitary gland enlargement and deteriorating visual fields. Conservative management with elective cesarean section was performed at 32 weeks gestation.

Health-related quality of life in women with polycystic ovary syndrome: a comparison with the general population using the Polycystic Ovary Syndrome Questionnaire (PCOSQ) and the Short Form-36 (SF-36).

Background: We examined whether women with polycystic ovary syndrome (PCOS) have poorer health-related quality of life (HRQoL) than women in the general population and than patients with other medical conditions.

Method: Women with PCOS were recruited from an outpatient clinic and a control group was recruited from a family planning clinic. Both groups completed the Short Form-36 (SF-36) and the Polycystic Ovary Syndrome Questionnaire (PCOSQ).