Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.

Context And Objective: Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in the absence of identifiable central lesions. Mutations of the makorin RING finger 3 (MKRN3) gene are associated with iCPP. We aimed to assess the frequency of MKRN3 mutations in iCPP and to compare the phenotypes of patients with and without MKRN3 mutations.

Pituitary Apoplexy.

Pituitary apoplexy, a rare clinical syndrome secondary to abrupt hemorrhage or infarction, complicates 2%-12% of pituitary adenomas, especially nonfunctioning tumors. Headache of sudden and severe onset is the main symptom, sometimes associated with visual disturbances or ocular palsy. Signs of meningeal irritation or altered consciousness may complicate the diagnosis.

Serum calcitriol concentrations measured with a new direct automated assay in a large population of adult healthy subjects and in various clinical situations.

The measurement of calcitriol [1,25(OH2)D], is important for the differential diagnosis of several disorders of calcium/phosphorus metabolism but is time-consuming and tricky. We measured serum calcitriol with a new automated direct assay on the Liaison XL platform in 888 healthy French Caucasian subjects aged 18-89 years, 32 patients with a surgically-proven PHPT, 32 pregnant women at the end of the first and at the end of the third trimester, and 24 dialysis patients before and after one year of supplementation with vitamin D3 or placebo. The mean calcitriol concentration (±SD) in the healthy population was 52.

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.

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.

Purpose: To report the spectrum of phenotypes in patients with autoimmune polyendocrinopathy syndrome type 1 (APS1)-related keratopathy.

Methods: In this retrospective observational case series, 6 patients followed for APS1 were included. Data collected included family history, age at presentation, and systemic and ophthalmic manifestations.

Central Precocious Puberty - Management and Long-term Outcomes.

Central precocious puberty (CPP) results from premature re-activation of the gonadotropic axis. CPP is much more common in girls than in boys and is idiopathic in most cases. In boys, precocious puberty is more likely to be linked to hypothalamic lesions (≈40%).

Triiodothyronine-predominant Graves' disease in childhood: detection and therapeutic implications.

Objective: To assess in a pediatric population, the clinical characteristics and management of triiodothyronine-predominant Graves' disease (T3-P-GD), a rare condition well known in adults, but not previously described in children.

Design: We conducted a university hospital-based observational study.

Methods: All patients with GD followed for more than 1 year between 2003 and 2013 (n=60) were included.

Should the WHO growth charts be used in France?

Background: Growth charts are an essential clinical tool for evaluating a child's health and development. The current French reference curves, published in 1979, have recently been challenged by the 2006 World Health Organization (WHO) growth charts.

Objective: To evaluate and compare the growth of French children who were born between 1981 and 2007, with the WHO growth charts and the French reference curves currently used.

Medical Treatment of Acromegaly with Dopamine Agonists or Somatostatin Analogs.

Treatment of acromegaly aims to correct (or prevent) tumor compression of surrounding tissues by excising the disease-causing lesion and reduce growth hormone (GH) and IGF-1 levels to normal values. When surgery (the usual first-line treatment) fails to correct GH/IGF-1 hypersecretion, medical treatment with dopamine agonists (DAs; particularly cabergoline) or somatostatin analogs (SAs) can be used. The GH receptor antagonist pegvisomant is helpful in patients who are totally or partially resistant to SAs and can be given in association with both SAs and/or DAs.

[Craniopharyngiomas: progress in pathogenesis and therapeutics].

This review focuses on new aspects in craniopharyngiomas with emphasis on pathogenic mechanisms and treatment strategies that were presented at the joined Endocrine Society/International Society of Endocrinology meeting in Chicago in June 2014. Craniopharyngiomas are benign epithelial tumors arising from the pituitary stalk or gland. Two subtypes could be distinguished: an adamatinomatous form that is more common in children, and a papillary form that is observed almost exclusively in adults.

Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients.

Background: Pituitary adenomas are rare in children and adolescents. The response of macroprolactinomas to dopamine agonists (DA) in this age group has been less extensively studied than in adults.

Objective: We retrospectively analyzed data on a large cohort of young patients with macroprolactinomas.

Pregnancy outcomes and relationship to treatment adequacy in women treated early for congenital hypothyroidism: a longitudinal population-based study.

Context: Untreated hypothyroidism is associated with a higher risk of adverse obstetric and neonatal outcomes. Pregnancy complications have yet to be evaluated in patients treated early for congenital hypothyroidism (CH).

Objective: This study aimed to investigate pregnancy outcomes and their determinants in a population-based registry of young adult women with CH.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Purpose: Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.

Methods: We identified patients with CHH and SHFM through international collaboration.

Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.

Characterization of the genetic defects causing gonadotropic deficiency has made a major contribution to elucidation of the fundamental role of Kisspeptins and Neurokinin B in puberty onset and reproduction. The absence of puberty may also reveal neurodevelopmental disorders caused by molecular defects in various cellular pathways. Investigations of these neurodevelopmental disorders may provide information about the neuronal processes controlling puberty onset and reproductive capacity.

Graves' disease in children.

Graves' disease is the most frequent cause of hyperthyroidism in children. It may occur at any time during childhood, but its frequency increases with age, peaking during adolescence. Antithyroid drugs (ATDs; methimazole or carbimazole) are usually recommended as the initial treatment and are generally well tolerated.

Congenital hypothyroidism: a clinical update of long-term outcome in young adults.

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. The early treatment of CH patients has successfully improved the prognosis and management of this disorder. Optimal treatment and management throughout the patient's life, beginning in the neonatal period, are required to ensure long-term health.

Growth hormone treatment for childhood short stature and risk of stroke in early adulthood.

Objectives: We investigated the incidence of stroke and stroke subtypes in a population-based cohort of patients in France treated with growth hormone (GH) for short stature in childhood.

Methods: Adult morbidity data were obtained in 2008-2010 for 6,874 children with idiopathic isolated GH deficiency or short stature who started GH treatment between 1985 and 1996. Cerebrovascular events were validated using medical reports and imaging data and classified according to standard definitions of subarachnoid hemorrhage, intracerebral hemorrhage, and ischemic stroke.

Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: : GNAS-activating mutations in pancreatic carcinogenesis.

GNAS-activating mutations are reported in intraductal papillary mucinous neoplasms (IPMNs) and in McCune-Albright syndrome, characterized by fibrous dysplasia, precocious puberty, and café au lait spots. Recently, IPMNs have been described as a McCune-Albright syndrome-associated tumor, present in about 15% of patients. The aim of the present work was to assess the prevalence of polyostotic fibrous dysplasia and McCune-Albright syndrome among patients operated on for presumptive sporadic IPMNs.

Impact of successful treatment of acromegaly on overnight heart rate variability and sleep apnea.

Background: Successful treatment of acromegaly improves disease-related cardiovascular mortality and morbidity, but its effects on autonomic modulation of the heart rate are unknown.

Objectives: We documented treatment-induced changes in time-domain heart rate variability, taking into account the confounding effects of obstructive sleep apnea.

Patients And Methods: Sixteen consecutive patients (12 males, aged 43 ± 12 y) with newly diagnosed acromegaly underwent overnight (12:00-7:00 am) cardiac Holter recordings coupled with polysomnography.

[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder. Mutations in the 21-hydroxylase gene account for 95 % of cases. CAH is classified according to symptoms and signs and to age of presentation.

Graves' disease in children.

Graves' disease is an autoimmune disorder resulting from thyrotropin receptor stimulation by autoantibodies. It may occur at any age during childhood, but its frequency increases with age, peaking during adolescence. Symptoms and signs are often recognizable and proportional to the increase in serum free thyroid hormone levels.

Acromegaly and McCune-Albright syndrome.

Background: McCune-Albright syndrome (MAS) includes the triad of poly/monostotic fibrous dysplasia, café-au-lait spots, and hyperfunctioning endocrinopathies. Acromegaly affects around 20% of MAS patients.

Aims: The objective was to review all reported cases of acromegaly associated with MAS.

Growth hormone, insulin-like growth factor-1, and the kidney: pathophysiological and clinical implications.

Besides their growth-promoting properties, GH and IGF-1 regulate a broad spectrum of biological functions in several organs, including the kidney. This review focuses on the renal actions of GH and IGF-1, taking into account major advances in renal physiology and hormone biology made over the last 20 years, allowing us to move our understanding of GH/IGF-1 regulation of renal functions from a cellular to a molecular level. The main purpose of this review was to analyze how GH and IGF-1 regulate renal development, glomerular functions, and tubular handling of sodium, calcium, phosphate, and glucose.