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Best Practice & Research. Clinical Endocrinology & Metabolism

Christian De Geyter
Since the first successful treatment with conventional in vitro fertilization (IVF) in 1978 assisted reproductive technology (ART) has become an integral part of modern medicine and now plays a key role in the fulfillment of family planning. At least five million of infants have been born as a result of ART and in some countries the proportion of infants born after ART now exceeds 5%. Such an impact of ART on society and demography call for adequate surveillance including vigilance of occurring adverse events, especially when novel technology is introduced...
January 25, 2019: Best Practice & Research. Clinical Endocrinology & Metabolism
Maria Grazia Giudice, Federico Del Vento, Christine Wyns
This paper aims at reviewing the fertility preservation strategies that could be considered in several conditions at risk of spermatogonial depletion such as 46,XY disorders of sexual development, Klinefelter syndrome and after gonadotoxic treatment in males highlighting current knowledge on diseases and processes involved in infertility as well as future directions along with their specific ethical issues. While sperm cryopreservation after puberty is the only validated technique for fertility preservation, for prepubertal boys facing gonadotoxic therapies or at risk of testicular tissue degeneration where testicular sperm is not present, cryopreservation of spermatogonial cells may be an option to ensure future parenthood...
January 23, 2019: Best Practice & Research. Clinical Endocrinology & Metabolism
Leandro Soriano-Guillén, Jesús Argente
Precocious puberty is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. Central precocious puberty (CPP) is diagnosed when activation of the hypothalamic-pituitary axis is identified. It is a rare disease with a clear female predominance. A background of international adoption increases its risk, with other environmental factors such as endocrine disruptors also being associated with CPP. The causes of CPP are heterogeneous, with alterations of the CNS being of special interest...
January 22, 2019: Best Practice & Research. Clinical Endocrinology & Metabolism
Feyza Darendeliler
The children with intrauterine growth restriction (IUGR) especially if they make a catch-up growth in early life have a higher risk for long term problems including short stature and also developing metabolic syndrome, Type 2 diabetes, insulin resistance and cardiovascular diseases. The studies also support that these children may have abnormalities in pubertal timing, adrenarche and reproductive function. The aim of this review was to summarize the published reports mainly on puberty and reproductive functions in children born IUGR at older ages in association with metabolic problems that they encounter...
January 22, 2019: Best Practice & Research. Clinical Endocrinology & Metabolism
Sudhaker D Rao
Parathyroid disorders are not as uncommon as once believed. Both hyper- and hypoparathyroidism are more prevalent in women, but for different reasons. The female preponderance seen in primary hyperparathyroidism may be pathogenically linked, as it is more common after menopause. By contrast, higher prevalence of hypoparathyroidism in women is related to thyroid surgery, which is performed more frequently in women; thus the female to male ratio of hyper- and hypoparathyroidism is about 3:1 and 4:1 respectively...
December 7, 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Francesco Tecilazich, Anna Maria Formenti, Stefano Frara, Raffaele Giubbini, Andrea Giustina
The goal of the clinical management of hypoparathyroidism is to correct acute and chronic hypocalcemia. Treatment of acute hypoparathyroidism via intravenous infusion of Ca++ salts, is necessary only in symptomatic patients, or in asymptomatic patients in the setting of a rapid decrease in ionized Ca++ levels. The treatment cornerstones of chronic hypoparathyroidism are oral supplementation of calcium and/or active vitamin D, that can be associated with dietary restriction of sodium and phosphates, thiazide diuretics, and phosphate binders...
December 6, 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Francesca Marta Elli, Arrate Pereda, Agnès Linglart, Guiomar Perez de Nanclares, Giovanna Mantovani
Metabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of target organs, in turn leading to manifestations similar to the deficiency of the hormone itself. Pseudohypoparathyroidism (PHP) and related disorders derive from a defect of the α subunit of the stimulatory G protein (Gsα) or of downstream effectors of the same pathway, such as the PKA regulatory subunit 1A and the phosphodiesterase type 4D. The increasing knowledge on these diseases made the actual classification of PHP outdated as it does not include related conditions such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), so that a new nomenclature and classification has been recently proposed grouping these disorders under the term "inactivating PTH/PTHrP signaling disorder" (iPPSD)...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Gemma Marcucci, Luisella Cianferotti, Maria Luisa Brandi
The clinical manifestations of hypoparathyroidism are variable and can involve almost any organ system. The main clinical features of the hypoparathyroidism are typically signs or symptoms due to neuromuscular irritability owing to low serum calcium level. In addition to hypocalcemia, hyperphosphatemia can contribute to long-term complications, including extra-skeletal calcifications. Bone turnover markers are generally decreased, and bone mass density is usually normal-increased compared to age- and gender-matched controls...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Luisella Cianferotti, Gemma Marcucci, Maria Luisa Brandi
Hypoparathyroidism, a disorder characterized by hypocalcemia ensuing from inadequate parathyroid hormone secretion, is a rather rare disorder caused by multiple etiologies. When not caused by inadvertent damage or removal of the parathyroids during neck surgery, it is usually genetically determined. Epidemiological figures of this disease are still scarce and mainly limited to countries where non-anonymous databases are available and to surgical case series. Both the surgical and non-surgical forms pose diagnostic challenges...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Eller-Vainicher Cristina, Falchetti Alberto
While primary hyperparathyroidism (PHPT) generally represents a common endocrine disorder, being the more frequent cause of hypercalcemia in outpatients, familial forms of PHPT (FPHPT) account for no more than 2-5% of the overall PHPT. In the last decades, many technical progresses in both molecular and biochemical-radiological evaluation have been made, and substantial advancements in understanding these disorders have been reached. Differences both in the pathogenesis and clinical presentation exist among the various hyperparathyroid syndromic forms, and, since FPHPT is frequently associated to other endocrine, proliferative and/or functional disorders, as also non-endocrine tumours, with varying clinical spectrum of occurrence in each syndrome, its early clinically detection for appropriately preventing complications (i...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Natalie E Cusano, Cristiana Cipriani, John P Bilezikian
Traditional hypercalcemic primary hyperparathyroidism is a common endocrine disease. Patients with a history of nephrolithiasis or a suspected metabolic bone disease are increasingly being identified with elevated PTH concentrations in the setting of consistently normal serum and ionized calcium concentrations. In the absence of secondary causes of hyperparathyroidism, a diagnosis of normocalcemic primary hyperparathyroidism is reasonable. As most cohorts described in the literature are from referral populations, involvement of the skeleton and the kidneys is common, two traditional target organs of primary hyperparathyroidism...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Filomena Cetani, Federica Saponaro, Claudio Marcocci
The purpose of this chapter is to discuss the options available for patients with primary hyperparathyrodism (PHPT) not undergoing parathyroidectomy (PTx). Adequate hydration should be recommended in all patients. Calcium intake should not be restricted and vitamin D deficiency should be corrected aiming at a serum concentration of 25OHD of >20 ng/mL or even higher (>30 ng/mL according to some opinion leaders). Pharmacologic therapy is not an alternative to PTx and could be considered in patients who meet the surgical criteria but unwilling to undergo PTx, as well as in patients with an increased risk of surgery or failed surgery...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
I Chiodini, E Cairoli, S Palmieri, J Pepe, M D Walker
Several studies suggested that the condition of primary hyperparathyroidism (PHPT) may be associated not only with the classical bone, kidney and gastrointestinal consequences, but also with cardiovascular, neuromuscular and articular complications, impaired quality of life and increased cancer risk. However, the only cardiovascular complications associated with PHPT, which seems to improve after parathyroidectomy, is left ventricular hypertrophy, while, data regarding the reversibility of hypertension, valve calcifications and increased vascular stiffness are inconsistent...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Salvatore Minisola, Laura Gianotti, Sanjay Bhadada, Shonni J Silverberg
Traditionally, classical complications of primary hyperparathyroidism are mainly represented by skeletal, kidney and gastrointestinal involvement. The old picture of osteitis fibrosa cystica is no longer commonly seen, at least in the western world. However, new imagining techniques have highlighted deterioration of skeletal tissue in patients with primary hyperparathyroidism not captured by traditional DXA measurement. Concerning the kidney, the most common consequences of excessive parathyroid hormone secretion are hypercalciuria and kidney stones; however, the exact pathogenesis of urinary stone formation is still unknown...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Falchetti Alberto
Several familial forms of primary hyperparathyroidism (PHTP) have been discovered over the past 25 years, and molecular test for their risk assessment has been widely increasing. These syndromic and non-syndromic forms have received benefits from the identification of the responsible genes whose mutations account for the genetic susceptibility to develop parathyroid tumours as also other endocrine and nonendocrine tumours. In recent years, care options have been made available to patients and families with hereditary PHPT, and the process of systematically assessing the genetic risk has been becoming increasingly important...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Richard J Egan, David M Scott-Coombes
Sporadic primary hyperparathyroidism (pHPT) is the commonest cause of hypercalcaemia in the ambulatory population. It has a female preponderance and its incidence is increasing. In 85% of cases it is caused by a single parathyroid adenoma, with four gland hyperplasia in up to 20%. Parathyroidectomy is the only cure and bilateral neck exploration remains the gold standard to achieve this. Several adjuncts have been developed to improve success rates or limit the extent of surgery. Pre-operative localisation permits planned targeted surgery...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Antonio Stefano Salcuni, Filomena Cetani, Vito Guarnieri, Vincenzo Nicastro, Elisabetta Romagnoli, Danilo de Martino, Alfredo Scillitani, David E C Cole
Parathyroid carcinoma (PC) is a rare disease with an indolent behavior due to the low malignant potential. The etiology is unknown. Somatic mutations of CDC73 gene, the same gene involved in the hyperparathyroidism-jaw tumor syndrome, can be identified in up to 70% of patients with PC and in one-third of cases the mutations are germline. Therefore, in patients who carry germline CDC73 gene mutations, its finding permits to identify the carriers among relatives and sometimes to early detect a parathyroid lesion in such subjects...
December 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Alfredo Scillitani, Vito Guarnieri
Parathyroid tumors represent an elusive endocrine neoplasia, which lead to primary hyperparathyroidism, pHPT, a common endocrine calcium disorder characterized by hypercalcemia and normal-high parathormone secretion. Parathyroid tumours are benign adenomas or multiple glands hyperplasia in the vast majority (>99% of cases), while malignant neoplasms are rare (less than 1%). Despite pHPT is a common disorder, our knowledge about the genetic predisposition and molecular pathophysiology is limited to the familial syndromic forms of parathyroid tumour, that, however, represent not more than the 10% of all the cases; instead, the pathophysiology of sporadic forms remains an open field, although data about epigenetic mechanisms or private genes have been supposed...
November 20, 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Alexander M Quaas, Richard S Legro
Medications to stimulate the ovaries may be used to induce ovulation in patients with anovulatory infertility or to hyperstimulate the ovaries in a controlled fashion in ovulatory patients as part of assisted reproductive treatments (ART). The pharmacology of all current major medications used to stimulate ovarian function is reviewed in this article, including letrozole, clomiphene citrate, gonadotropins, and pulsatile gonadotropin releasing hormone (GnRH). Novel potential compounds and adjuvant treatment approaches are also discussed, such as kisspeptin agonists and androgens...
November 12, 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
Michael von Wolff
Natural Cycle IVF (NC-IVF) with and without modifications is being increasingly performed. NC-IVF and conventional gonadotropin-stimulated IVF (cIVF) should not be understood as competing treatments, but as complementary treatments with different target groups and to some extent other indications. NC-IVF is particularly interesting for couples who wish to save money, wish a treatment with as few risks as possible and for women who would like to avoid selection and cryopreservation of embryos. NC-IVF therefore contributes to the concept of individualized and patient-oriented therapy...
November 9, 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
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