Women With Congenital Adrenal Hyperplasia Have Favorable Pregnancy Outcomes but Prolonged Time to Conceive.

Objective: To study pregnancy outcomes and complications in women with congenital adrenal hyperplasia (CAH).

Methods: A retrospective multicenter study was conducted at tertiary reference centers in 5 countries (Austria, Germany, Italy, Sweden, USA), including 72 adult women with CAH (nonclassic [NC] n = 34, simple virilizing [SV] n = 21, salt wasting [SW] n = 17).

Results: A total of 133 pregnancies, 112 live births, and 25 abortions were documented.

Frequency of stress dosing and adrenal crisis in paediatric and adult patients with congenital adrenal hyperplasia: a prospective study.

Objective: Patients with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement, including stress dosing (SD). This study prospectively assessed adrenal crisis (AC) incidence, frequency, and details of SD and disease knowledge in adult and paediatric patients and their parents.

Design: Prospective, observational study.

Major immunophenotypic abnormalities in patients with primary adrenal insufficiency of different etiology.

Introduction: Patients with primary adrenal insufficiency (PAI) suffer from increased risk of infection, adrenal crises and have a higher mortality rate. Such dismal outcomes have been inferred to immune cell dysregulation because of unphysiological cortisol replacement. As the immune landscape of patients with different types of PAI has not been systematically explored, we set out to immunophenotype PAI patients with different causes of glucocorticoid (GC) deficiency.

Synthetic glucocorticoids instead of hydrocortisone do not increase mineralocorticoid needs in adult patients with salt wasting congenital adrenal hyperplasia.

It has been postulated that in patients with congenital adrenal hyperplasia (CAH) with salt wasting (SW), fludrocortisone needs might be higher in those on synthetic glucocorticoid replacement therapy in comparison to conventional hydrocortisone due to the lower mineralocorticoid activity. Here we report the results of a cross-sectional single center study comparing mineralocorticoid needs between patients taking synthetic glucocorticoids (S-GC) (N = 24) and those on conventional hydrocortisone (HC) (N = 16). We could show that while both groups took comparable HC-equivalent dosages, there was no significant difference in FC dosage (GC: 0.

11-Oxygenated androgens are not secreted by the human ovary: in-vivo data from four different cases of hyperandrogenism.

Objective: Differentiation of an adrenal from an ovarian source of hyperandrogenemia can be challenging. Recent studies have highlighted the importance of 11-oxygenated C19 steroids to the androgen pool in humans. The aim of this study was to confirm the origin of 11-oxygenated androgens in females and to explore their potential use in the diagnostics of hyperandrogenic disorders.

11-Oxygenated C19 steroids are the predominant androgens responsible for hyperandrogenemia in Cushing's disease.

Background: Symptoms of hyperandrogenism are common in patients with Cushing's disease (CD), yet they are not sufficiently explained by androgen concentrations. In this study, we analyzed the contribution of 11-oxygenated C19 steroids (11oxC19) to hyperandrogenemia in female patients with CD.

Methods: We assessed saliva day profiles in females with CD pre (n = 23) and post (n = 13) successful transsphenoidal surgery, 26 female controls, 5 females with CD treated with metyrapone and 5 treated with osilodrostat for cortisol, cortisone, androstenedione (A4), 11-hydroxyandrostenedione (11OHA4), testosterone (TS), 11-ketotestosterone (11KT), as well as metabolites of classic and 11-oxygenated androgens in 24-h urine.

Ectopic Prostate Tissue in the Uterine Cervix of a Female with Non-Classic Congenital Adrenal Hyperplasia-A Case Report.

Introduction: The occurrence of ectopic prostate tissue in the female genital tract is rare and has only been described sporadically. The origin of these lesions is unclear, but their appearance seems to be associated with various forms of androgen excess, including androgen therapy for transgender treatment or disorders of sex development, such as classic congenital adrenal hyperplasia (CAH). This is the first described case of ectopic prostate tissue in the cervix uteri of a 46,XX patient with a confirmed diagnosis of non-classic CAH due to 21-OHD and a history of mild adrenal androgen excess.

The Flashlight-Sign: A Novel B-Flow Based Ultrasound Finding for Detection of Intraluminal, Wall-Adherent, Floating Structures of the Abdominal Aorta and Peripheral Arteries.

This study aimed to evaluate the potential diagnostic value of a novel, sonographic, B-Flow (BFl)-based sign ("flashlight sign", FLS) for the detection of wall-adherent, floating arterial structures (WAFAS). The FLS, characterized by a fast moving, very bright, intraluminal signal, was detected in 28 patients with WAFAS. We divided this cohort into three subgroups according to the affected vascular segments: (1) peripheral arteries ( = 10); (2) native abdominal aorta ( = 8); and (3) abdominal aorta after endovascular aortic repair (EVAR; = 10).

Preoperative Imaging with [F]-Fluorocholine PET/CT in Primary Hyperparathyroidism.

Primary hyperparathyroidism (pHPT) is a common endocrine disorder due to hyperfunctioning parathyroid glands. To date, the only curing therapy is surgical removal of the dysfunctional gland, making correct detection and localization crucial in order to perform a minimally invasive parathyroidectomy. F-Fluorocholine positron emission tomography/computed tomography (F-FCH PET/CT) has shown promising results for the detection of pHPT, suggesting superiority over conventional imaging with ultrasounds or scintigraphy.

Diagnostic yield of axillary artery ultrasound in addition to temporal artery ultrasound for the diagnosis of giant cell arteritis.

Objectives: There are limited data on the additional diagnostic yield of axillary artery ultrasound (axUS) in addition to temporal artery ultrasound (tempUS) for the diagnosis of giant cell arteritis (GCA).

Methods: Retrospective study of consecutive patients with suspected GCA who underwent a standardized axUS and tempUS between 01/2015 and 03/2017. The diagnostic yield of axUS in addition to ultrasound of the temporal arteries with respect to the final clinical diagnosis was assessed, with a positive axUS defined as circumferential, hypoechogenic thickening of the far wall axillary artery intima media thickness (axIMT) ≥1.

Personalized drug testing in human pheochromocytoma/paraganglioma primary cultures.

Aggressive pheochromocytomas and paragangliomas (PPGLs) are difficult to treat, and molecular targeting is being increasingly considered, but with variable results. This study investigates established and novel molecular-targeted drugs and chemotherapeutic agents for the treatment of PPGLs in human primary cultures and murine cell line spheroids. In PPGLs from 33 patients, including 7 metastatic PPGLs, we identified germline or somatic driver mutations in 79% of cases, allowing us to assess potential differences in drug responsivity between pseudohypoxia-associated cluster 1-related (n = 10) and kinase signaling-associated cluster 2-related (n = 14) PPGL primary cultures.

Hyperechogenic intimal lesions and wall thickness of the temporal and facial arteries in elderly patients with arterial occlusions of the eye.

Objective: To determine the association of arteriosclerosis, characterised by hyperechogenic intimal lesions (HIL), with wall thickness of the temporal and facial arteries in elderly patients with ocular arterial occlusions.

Methods: Patients suffering from non-arteritic ocular perfusion disorders were included. High-resolution compression sonography (18 MHz) images of the temporal arteries (frontal and parietal branch at the upper margin of the auricle) and facial arteries (at the crossing point of the artery over the mandible) were analysed for the presence of HIL (grade 0: absent; grade 1: moderate; grade 2: severe).

Salivary Profiles of 11-oxygenated Androgens Follow a Diurnal Rhythm in Patients With Congenital Adrenal Hyperplasia.

Context: Several studies have highlighted the importance of the 11-oxygenated 19-carbon (11oxC19) adrenal-derived steroids as potential biomarkers for monitoring patients with 21-hydroxylase deficiency (21OHD).

Objective: To analyze circadian rhythmicity of 11oxC19 steroids in saliva profiles and evaluate their relevance as potential monitoring parameters in 21OHD.

Design, Setting, And Participants: Cross-sectional single-center study including 59 patients with classic 21OHD (men = 30; women = 29) and 49 body mass index- and age-matched controls (men = 19; women = 30).

11-oxygenated androgens and their relation to hypothalamus-pituitary-gonadal-axis disturbances in adults with congenital adrenal hyperplasia.

Context: Hypothalamus-pituitary-gonadal (HPG)-axis disturbances are a common phenomenon in patients with classic congenital adrenal hyperplasia (CAH). 11-oxygenated androgens have been suggested to play a role in this context.

Design: Cross-sectional single center study including 89 patients (N = 42 men, N = 55 women) with classic CAH.

Simulated ward round training in the medical curriculum Munich.

Conducting a ward round in a structured and goal-oriented manner is one of the central competencies of a physician's work. Despite its relevance, ward round competence was only addressed in an unstructured way in the Medical Curriculum Munich (MeCuM) prior to 2011. Therefore, the project's aim was to implement an evidence-based course on medical ward round competence.

A Diagnostic Algorithm Based on a Simple Clinical Prediction Rule for the Diagnosis of Cranial Giant Cell Arteritis.

Background: Risk stratification based on pre-test probability may improve the diagnostic accuracy of temporal artery high-resolution compression sonography (hrTCS) in the diagnostic workup of cranial giant cell arteritis (cGCA).

Methods: A logistic regression model with candidate items was derived from a cohort of patients with suspected cGCA ( = 87). The diagnostic accuracy of the model was tested in the derivation cohort and in an independent validation cohort ( = 114) by receiver operator characteristics (ROC) analysis.

Implementation of self-directed learning within clinical clerkships.

The main aim of medical curricula is to prepare students for the first day at the work place. While teaching clinical competence is pivotal, clinical clerkships are often the last chance to close knowledge gaps with the help of clinical teachers. Self-directed learning is a dynamic field for research within medical education, though its curricular implementation is rare.

Transocular sonography in acute arterial occlusions of the eye in elderly patients: Diagnostic value of the spot sign.

Purpose: To characterize the diagnostic yield of the spot sign in the diagnostic workup of acute arterial occlusions of the eye in elderly patients.

Methods: Clinical characteristics of consecutive patients aged ≥ 50 years with acute central retinal artery occlusion (CRAO), branch retinal artery occlusion (BRAO) or anterior ischemic optic neuropathy (AION) were recorded. Videos of transocular sonography were assessed for the presence of the spot sign by two blinded readers.

Atherosclerotic Burden and Arterial Stiffness are Not Increased in Patients with Milder Forms of Primary Aldosteronism Compared to Patients with Essential Hypertension.

Patients with primary aldosteronism (PA) are at increased cardiovascular risk, compared to patients with essential hypertension (EH). Cardiovascular damage could depend on PA phenotype, potentially being lower in milder forms of PA. Our aim was to assess atherosclerotic burden and arterial stiffness in 88 prospectively recruited patients, including 44 patients with mild PA and EH respectively.

Temporal artery compression sonography for the diagnosis of giant cell arteritis in elderly patients with acute ocular arterial occlusions.

Objectives: To validate cut-off values of quantitative high-resolution temporal artery compression sonography (TCS) for the diagnosis of cranial GCA (cGCA) in patients with acute arterial ocular occlusions and in an independent control group.

Methods: Consecutive patients who underwent TCS as part of the diagnostic workup of acute arterial ocular occlusions and controls not suffering from ocular ischaemia/systemic vasculitis were included. The diagnostic accuracy of the established TCS cut-off value of maximum temporal artery wall thickness (≥0.

[Diagnostic work-up in central retinal artery occlusion and ischemic optic neuropathy - what is important?].

Ischemia of the retina in central retinal artery occlusion (CRAO) and of the optic nerve in ischemic optic neuropathy (ION) are common causes of irreversible vision loss in elderly patients and require a thorough diagnostic work-up. First and foremost, giant cell arteritis should be confirmed or ruled out. The further work-up of non-arteritic CRAO and non-arteritic ION (nAION) aims to determine the cardiovascular risk profile.