Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women.

Context: Fasting is stressful for the human body. It is managed by metabolic adaptations maintaining energy homeostasis and involves steroid hormone biosynthesis, but the exact interplay between energy and steroid metabolism remains elusive. Women with polycystic ovary syndrome (PCOS) suffer from disturbed metabolism and androgen excess, while in women with anorexia nervosa, cortisol and androgen production are decreased. By contrast, starvation of steroidogenic cells shifts adrenal steroid biosynthesis toward enhanced androgen production. Aim: This study investigated the effect of fasting on steroid production in healthy women. Methods: Twenty healthy young women fasted for 48 hours; steroid profiles from plasma and urine samples were assessed at baseline, after 24 hours, and 48 hours by liquid and gas chromatography-mass spectrometry. Results: Fasting did not change overall steroidogenesis, although it increased progestogen production and lowered relative mineralocorticoid, glucocorticoid, and androgen production. The largest decrease in urine metabolites was seen for ß-cortol, dehydroepiandrosterone, and androstenediol; higher levels were found for pregnanediol in urine and progesterone and aldosterone in serum. Activity of 17α-hydroxylase/17,20-lyase (CYP17A1), essential for androgen biosynthesis, was decreased after fasting in healthy women as were 21-hydroxylase (CYP21A2) and 5α-reductase activities. By contrast, hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1) activity for cortisol inactivation seemed to increase with fasting. Conclusion: Significant changes in steroid metabolism occurred after 48 hours of fasting in healthy women. In contrast to metabolic changes seen at baseline in PCOS women compared to healthy women, and after starving of steroidogenic cells, no androgen excess was observed after short-term fasting in healthy young women.

Health behaviour of women with Turner Syndrome.

AIM: This study assessed lifestyle-related risk factors for cardiovascular disease in young women with Turner syndrome. METHODS: In 2012, we sent a questionnaire to women with Turner syndrome aged ≥18 years and living in Switzerland with questions on socio-demographic and medical data as well as health behaviour. We compared the reported lifestyle with that of women from the Swiss Health Survey 2012, a representative survey of the general population. RESULTS: Fifty-seven per cent (45/79) of women with Turner syndrome answered the questionnaire (mean age: 24 years). Eighty per cent (36/45) had never smoked compared with 58% (1156/1972) of the general population (p < 0.01). Women with Turner syndrome engaged less often in binge drinking (34% vs. 71%) (p < 0.001), but consumed alcohol equally often as the general population (p = 0.327). They performed sports as often as the general population (p = 0.34), but only one quarter (11/45) of women with Turner syndrome adhered to official physical activity recommendations. CONCLUSION: Although most women with Turner syndrome had a healthy lifestyle, only a minority had sufficient physical activity. Paediatricians should promote structured physical activity in girls with Turner syndrome from early childhood onwards to reduce their cardiovascular risk in adulthood and to increase long-term health-related quality of life.

Approach to the Virilizing Girl at Puberty.

Virilization is the medical term for describing a female who develops characteristics associated with male hormones (androgens) at any age, or when a newborn girl shows signs of prenatal male hormone exposure at birth. In girls, androgen levels are low during pregnancy and childhood. A first physiologic rise of adrenal androgens is observed at the age of 6 to 8 years and reflects functional activation of the zona reticularis of the adrenal cortex at adrenarche, manifesting clinically with first pubic and axillary hairs. Early adrenarche is known as "premature adrenarche." It is mostly idiopathic and of uncertain pathologic relevance but requires the exclusion of other causes of androgen excess (eg, nonclassic congenital adrenal hyperplasia) that might exacerbate clinically into virilization. The second modest physiologic increase of circulating androgens occurs then during pubertal development, which reflects the activation of ovarian steroidogenesis contributing to the peripheral androgen pool. However, at puberty initiation (and beyond), ovarian steroidogenesis is normally devoted to estrogen production for the development of secondary female bodily characteristics (eg, breast development). Serum total testosterone in a young adult woman is therefore about 10- to 20-fold lower than in a young man, whereas midcycle estradiol is about 10- to 20-fold higher. But if androgen production starts too early, progresses rapidly, and in marked excess (usually more than 3 to 5 times above normal), females will manifest with signs of virilization such as masculine habitus, deepening of the voice, severe acne, excessive facial and (male typical) body hair, clitoromegaly, and increased muscle development. Several medical conditions may cause virilization in girls and women, including androgen-producing tumors of the ovaries or adrenal cortex, (non)classical congenital adrenal hyperplasia and, more rarely, other disorders (also referred to as differences) of sex development (DSD). The purpose of this article is to describe the clinical approach to the girl with virilization at puberty, focusing on diagnostic challenges. The review is written from the perspective of the case of an 11.5-year-old girl who was referred to our clinic for progressive, rapid onset clitoromegaly, and was then diagnosed with a complex genetic form of DSD that led to abnormal testosterone production from a dysgenetic gonad at onset of puberty. Her genetic workup revealed a unique translocation of an abnormal duplicated Y-chromosome to a deleted chromosome 9, including the Doublesex and Mab-3 Related Transcription factor 1 (DMRT1) gene. LEARNING OBJECTIVES: Identify the precise pathophysiologic mechanisms leading to virilization in girls at puberty considering that virilization at puberty may be the first manifestation of an endocrine active tumor or a disorder/difference of sex development (DSD) that remained undiagnosed before and may be life-threatening. Of the DSDs, nonclassical congenital adrenal hyperplasia occurs most often.Provide a step-by-step diagnostic workup plan including repeated and expanded biochemical and genetic tests to solve complex cases.Manage clinical care of a girl virilizing at puberty using an interdisciplinary team approach.Care for complex cases of DSD manifesting at puberty, such as the presented girl with a Turner syndrome-like phenotype and virilization resulting from a complex genetic variation.

Prescription of vitamin D among Swiss pediatricians.

The traditional recommendation that Swiss children receive vitamin D during the first year of life was recently extended to the second and third year of life and during winter for older children. The aim of the study was to identify how Swiss pediatricians prescribe vitamin D. Between December 2016 and March 2017, 795 (52%) of 1530 invited Swiss board-certified pediatricians answered a closed-ended questionnaire. Respondents routinely prescribe vitamin D supplements in infants ≤ 1 year of age, but infrequently in children ≥ 3 years of age. Only a minority of them prescribe vitamin D in children with conditions that predispose to poor vitamin D status. Oily vitamin D preparations are the most popular and are usually prescribed in a once-a-day regimen. In situations like intake of drugs interfering with vitamin D metabolism, intestinal malabsorption, and diabetes mellitus, Swiss pediatricians often seek the advice of a subspecialist. In cases with clinical suspicion of poor vitamin D status, the diagnosis is confirmed by the determination of 25-hydroxyvitamin D.Conclusion: Few pediatricians prescribe a vitamin D supplementation in children ≥ 3 years of age. Collaboration between policymakers and health care professionals is required to fill the gap between guidelines and clinical practice. What is Known: • In Switzerland, vitamin D supplementation is recommended during the first, second, and third year of life as well as during winter for older children. • Both alcoholic and oily preparations are currently available. What is New: • Swiss pediatricians routinely prescribe vitamin D in infants ≤ 1 year of age, but infrequently in children ≥ 3 years of age. • Oily vitamin D preparations are the most popular and are usually prescribed in a once-a-day regimen.

National modulators of symptomatic fever management in children: comparative analysis of survey data.

BACKGROUND: In symptomatic fever management of children, cultural differences have been detected. We aimed at investigating the presence of national modulators of symptomatic fever management. METHODS: We analyzed the data collected in the context of the Swiss national survey on symptomatic fever management in children and of an adapted version of that survey performed in Lombardy (Northern Italy). RESULTS: Ibuprofen (P<0.001) and an alternation regimen with 2 drugs (P<0.001) are more often prescribed in Switzerland than in Lombardy. In front of a comfortable child whose fever has not responded to the first antipyretic, Swiss pediatricians are more aggressive than Italian colleagues (P<0.001). In an 18-month-old child, the rectal administration route of paracetamol is less often chosen in Lombardy than in Switzerland (P<0.025). Additionally, some previously identified cultural differences among linguistically different regions of Switzerland (role of reduced general appearance and perceived frequency of fever phobia) held true also beyond national borders. CONCLUSIONS: Several significant differences between Northern Italy and the different speaking regions of Switzerland were detected. This suggests the existence of national modulators of symptomatic fever management in children.

Acute Idiopathic Scrotal Edema: Systematic Literature Review.

INTRODUCTION: Existing information on acute idiopathic scrotal edema relies on small case series and textbooks. METHODS: We searched reports with no date limits on acute idiopathic scrotal edema. RESULTS: Thirty-seven studies were included. Sixteen case series addressed the prevalence of acute idiopathic scrotal edema among males with acute scrotum: among 3,403 cases, the diagnosis of acute idiopathic scrotal edema was made in 413 cases (12%). Twenty-four reports addressed history, findings, management, and course of acute idiopathic scrotal edema in 311 patients. The patients mostly ranged in age from 5 to 8 years, presented with acute scrotal redness and swelling, associated or not with mild pain. Ninety percent or more of the cases developed in patients without atopic diathesis and were not preceded by inguinoscrotal surgery, acute febrile illnesses, or trauma. They were afebrile; in good general condition; and presented without pruritus, nausea or vomiting, or abdominal pain. The lesions were bilateral in two-thirds and unilateral in one-third of the cases. The condition resolved spontaneously within 2 to 3 days without sequelae. Approximately 10% of the cases experienced a recurrence. CONCLUSION: Acute idiopathic scrotal edema is a self-limiting condition that accounts for ≥ 10% of cases of acute scrotum in children and adolescents.

Clustering of cardiovascular disease risk factors among male youths in Southern Switzerland: preliminary study.

PRINCIPLES: The distribution of cardiovascular disease risk factors among youths in Southern Switzerland is poorly understood. The aim of this preliminary study was therefore to describe the prevalence of cardiovascular disease risk factors in 18- to 20-year-old males undergoing medical examination to assess fitness for recruitment into the army. METHODS: Between 2009 and 2013, 1541 (21%) out of 7310 conscripts volunteered for answering a structured questionnaire addressing smoking behaviour, sedentariness and familial cardiovascular risk factors, as well as for measurement of blood pressure, lipidaemia and waist circumference. RESULTS: Height, weight, body fatness and blood pressure were not statistically different between conscripts who had or had not volunteered to participate in the study. The following risk factors were detected: smoking (n = 656; 43% of the study participants), sedentariness (n = 594; 39%), positive cardiovascular family history (n = 235; 15%), blood pressure ≥140/90 mm Hg (n = 88; 5.7%), total cholesterol ≥5.2 mmol/l (n = 83; 5.4%), waist circumference ≥1.02 m (n = 55; 3.6%). No cardiovascular risk factor was detected in 434 (28%), one factor in 612 (40%) and two or more factors in 495 (32%) participants. CONCLUSIONS: This preliminary cross-sectional survey generated the first analysis of cardiovascular risk factors among ostensibly healthy male youths living in Southern Switzerland. The main finding is that two or more cardiovascular disease risk factors are present in approximately one third of them. Since smoking and sedentary lifestyle, the most commonly detected cardiovascular risk factors, are preventable, youths represent an opportunity for the promotion of lifestyles that will affect the development and progression of atherosclerotic disease.

Magnesium in cystic fibrosis--Systematic review of the literature.

BACKGROUND: The metabolism of sodium, potassium, and chloride and the acid-base balance are sometimes altered in cystic fibrosis. Textbooks and reviews only marginally address the homeostasis of magnesium in cystic fibrosis. METHODS: We performed a search of the Medical Subject Headings terms (cystic fibrosis OR mucoviscidosis) AND (magnesium OR hypomagnes[a]emia) in the US National Library of Medicine and Excerpta Medica databases. RESULTS: We identified 25 reports dealing with magnesium and cystic fibrosis. The results of the review may be summarized as follows. First, hypomagnesemia affects more than half of the cystic fibrosis patients with advanced disease; second, magnesemia, which is normally age-independent, relevantly decreases with age in cystic fibrosis; third, aminoglycoside antimicrobials frequently induce both acute and chronic renal magnesium-wasting; fourth, sweat magnesium concentration was normal in cystic fibrosis patients; fifth, limited data suggest the existence of an impaired intestinal magnesium balance. Finally, stimulating observations suggest that magnesium supplements might achieve an improvement in respiratory muscle strength and mucolytic activity of both recombinant and endogenous deoxyribonuclease. CONCLUSIONS: The first comprehensive review of the literature confirms that, despite being one of the most prevalent minerals in the body, the importance of magnesium in cystic fibrosis is largely overlooked. In these patients, hypomagnesemia should be sought once a year. Furthermore, the potential of supplementation with this cation deserves more attention.

Arterial hypertension in children.

PURPOSE OF REVIEW: Although arterial hypertension is less common in children than in adults, there is growing concern about elevated blood pressure (BP) in children and adolescents not only because of the association of elevated values with the overweight epidemic, but also as cardiovascular functions are determined in childhood and track into adulthood. The purpose of the review is to discuss new aspects of childhood hypertension. RECENT FINDINGS: Guidelines advocate determining BP in children as part of routine health maintenance. This recommendation was recently subject to review by the US Preventive Services Task Force. It was concluded that evidence is insufficient to assess the benefits of this screening. In our opinion, however, assessing BP is part of any thorough physical examination.Sophisticated approaches demonstrate the role of sympathetic nervous system overdrive in the field of sympathetic cardiovascular modulation of childhood arterial hypertension. SUMMARY: Elevated BP in children is increasing in frequency and is now recognized as having relevant short-term and long-term consequences. Although efforts to address the childhood overweight epidemic may eventually reduce the number of young patients with hypertension, improved therapies for childhood hypertension also offer the potential for preventing or ameliorating early cardiovascular disease.

The great fluid debate: saline or so-called "balanced" salt solutions?

BACKGROUND: Intravenous fluids are commonly prescribed in childhood. 0.9 % saline is the most-used fluid in pediatrics as resuscitation or maintenance solution. Experimental studies and observations in adults suggest that 0.9 % saline is a poor candidate for fluid resuscitation. Although anesthesiologists, intensive care specialists, perioperative physicians and nephrologists have been the most active in this debate, this issue deserves some physiopathological considerations also among pediatricians. RESULTS: As compared with so-called "balanced" salt crystalloids such as lactated Ringer, administration of large volumes of 0.9 % saline has been associated with following deleterious effects: tendency to hyperchloremic metabolic acidosis (called dilution acidosis); acute kidney injury with reduced urine output and salt retention; damaged vascular permeability and stiffness, increase in proinflammatory mediators; detrimental effect on coagulation with tendency to blood loss; detrimental gastrointestinal perfusion and function; possible uneasiness at the bedside resulting in unnecessary administration of more fluids. Nevertheless, there is no firm evidence that these adverse effects are clinically relevant. CONCLUSIONS: Intravenous fluid therapy is a medicine like insulin, chemotherapy or antibiotics. Prescribing fluids should fit the child's history and condition, consider the right dose at the right rate as well as the electrolyte levels and other laboratory variables. It is unlikely that a single type of fluid will be suitable for all pediatric patients. "Balanced" salt crystalloids, although more expensive, should be preferred for volume resuscitation, maintenance and perioperatively. Lactated Ringer appears unsuitable for patients at risk for brain edema and for those with overt or latent chloride-deficiency. Finally, in pediatrics there is a need for new fluids to be developed on the basis of a better understanding of the physiology and to be tested in well-designed trials.

Taste acceptability of pulverized brand-name and generic drugs containing amlodipine or candesartan.

Trials with pulverized brand-name antihypertensive drugs suggest that, from the perspective of taste acceptability, crushed candesartan, chlortalidon, hydrochlorothiazide, lercanidipine and lisinopril should be preferred to pulverized amlodipine, atenolol, bisoprolol, enalapril, irbesartan, losartan, ramipril, telmisartan and valsartan. Brand-name antihypertensive drugs and the corresponding generic medicines have never been compared with respect to their taste acceptability. We therefore investigated among healthy health care workers the taste acceptability of a pulverized 1 mg-test dose of the brand-name and two generics containing either the dihydropyridine calcium-channel blocker amlodipine (Norvasc(®), Amlodipin-Mepha(®) and Amlodipin Pfizer(®)) or the angiotensin receptor antagonist candesartan (Atacand(®), Cansartan-Mepha(®) and Pemzek(®)). For this purpose, a smiley-face scale depicting four degrees of pleasure was used. Between November and December 2013, the taste test was performed among 19 nurses (15 female and 4 male subjects) and 12 physicians (5 female and 7 male subjects) aged between 25 and 49 years. Pulverized brand-names and generics containing either amlodipine or candesartan did not differ with respect to their taste acceptability.