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View article: Diferencias de los hábitos de consumo de Internet en Para qué usamos Internet, un acercamiento desde la visión de género: ¿Para qué usan Internet principalmente los usuarios en Quintana Roo, México?.
Diferencias de los hábitos de consumo de Internet en Para qué usamos Internet, un acercamiento desde la visión de género: ¿Para qué usan Internet principalmente los usuarios en Quintana Roo, México?. Open
View article: Galactorrhoea and amenorrhea as first symptoms of acute myeloid leukaemia: a case report and literature review
Galactorrhoea and amenorrhea as first symptoms of acute myeloid leukaemia: a case report and literature review Open
In the absence of central nervous system involvement, ectopic PRL secretion by leukemic blasts appears to be the most plausible explanation for the elevated PRL levels in this case.
View article: Craniopharyngiomas in children: the pendulum moves again for an aggressive surgery—late complications and considerations with a recent series of 26 patients treated in Lyon
Craniopharyngiomas in children: the pendulum moves again for an aggressive surgery—late complications and considerations with a recent series of 26 patients treated in Lyon Open
Background Craniopharyngioma (CP) surgery in children leads to high rate of recurrence, and morbid complications. Transcranial approach is the most frequently proposed surgical technique, but transsphenoidal endoscopic approach is also use…
View article: Inhibin B and AMH for Diagnosis of Hypogonadotropic Hypogonadism in Boys Under 1 Year of Age: A Case-control Study
Inhibin B and AMH for Diagnosis of Hypogonadotropic Hypogonadism in Boys Under 1 Year of Age: A Case-control Study Open
Context Congenital hypogonadotropic hypogonadism (CHH) in infant boys is a rare disorder that can manifest as micropenis and/or cryptorchidism. Mini-puberty is considered a window of opportunity for CHH diagnosis and treatment. The lack of…
View article: Craniopharyngiomas in children: the pendulum moves again for an aggressive surgery. Late complications and considerations with a recent series of 26 patients treated in Lyon
Craniopharyngiomas in children: the pendulum moves again for an aggressive surgery. Late complications and considerations with a recent series of 26 patients treated in Lyon Open
Background: Craniopharyngioma (CP) surgery in children leads to high rate of recurrence, and morbid complications. Transcranial approach is the most frequently proposed surgical technique, but transsphenoidal endoscopic approach is also us…
View article: Galactorrhea and amenorrhea as first symptoms of acute myeloid leukemia
Galactorrhea and amenorrhea as first symptoms of acute myeloid leukemia Open
View article: Diagnosis and management of children and adult craniopharyngiomas: A French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement
Diagnosis and management of children and adult craniopharyngiomas: A French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement Open
View article: Diagnosis and management of congenital hypopituitarism in children
Diagnosis and management of congenital hypopituitarism in children Open
Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production of one or several anterior pituitary hormones (growth hormone [GH], t…
View article: Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholds
Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholds Open
STUDY QUESTION Is the 24-h urinary gonadotropin assay an effective diagnostic tool in central precocious puberty (CPP) in girls? SUMMARY ANSWER This study is the first to provide 24-h urinary gonadotropin assay data, using an electrochemil…
View article: Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling Open
Objective SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome caused by biallelic variants in POC1A, encoding a centriolar protein. SOFT syndrom…
View article: Metabolic disturbances in children with narcolepsy: a retrospective study
Metabolic disturbances in children with narcolepsy: a retrospective study Open
Study objectives To determine the prevalence of metabolic syndrome (MS) in children with narcolepsy and to evaluate their clinical and sleep characteristics according to the different components of MS. Methods This retrospective study cons…
View article: The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing Open
Introduction Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely betw…
View article: Growth Hormone Replacement Therapy Seems to Be Safe in Children with Low-Grade Midline Glioma: A Series of 124 Cases with Review of the Literature
Growth Hormone Replacement Therapy Seems to Be Safe in Children with Low-Grade Midline Glioma: A Series of 124 Cases with Review of the Literature Open
There is little scientific evidence regarding the safety of GHRT in LGG, where GH deficiency is common. Purpose: to compare the recurrence rate in children with midline LGG, depending on whether or not they have received GHRT, in order to …
View article: 0629 Metabolic syndrome in narcoleptic children
0629 Metabolic syndrome in narcoleptic children Open
Introduction Narcolepsy is a disabling neurological disorder characterized primarily by excessive daytime sleepiness (EDS), cataplexy, hypnagogic hallucinations, sleep paralysis, rapid eye movement (REM) behavior disorder (RBD) and disturb…
View article: Characterization of rapid weight gain phenotype in children with narcolepsy
Characterization of rapid weight gain phenotype in children with narcolepsy Open
Objectives To characterize the rapid weight gain (RWG) phenotype associated with the onset of childhood narcolepsy and to determine whether it could constitute a marker of severity of the disease. Methods RWG was defined using the BMI z‐sc…
View article: VP57.03: Transvaginal ultrasound evaluation of cervix as a tool in predicting successful labour induction in term pregnancies: systematic review and meta‐analysis
VP57.03: Transvaginal ultrasound evaluation of cervix as a tool in predicting successful labour induction in term pregnancies: systematic review and meta‐analysis Open
The study aims to determine diagnostic value of transvaginal ultrasound cervical evaluation in labour induction outcome in term pregnancies, review of published studies on pre-induction ultrasound cervix evaluation compared to Bishop score…
View article: Narcolepsy with cataplexy: Does age at diagnosis change the clinical picture?
Narcolepsy with cataplexy: Does age at diagnosis change the clinical picture? Open
Objective To compare symptoms and sleep characteristics in patients diagnosed with narcolepsy‐cataplexy (NC) before and after the age of 18 years. Methods De novo patients with NC diagnosis completed a standardized questionnaire and interv…
View article: Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism
Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism Open
Donohue syndrome (leprechaunism; OMIM *246200) is a rare and often lethal autosomal recessive disease caused by mutations in the INSR gene. We report the case of a 29-year-old pregnant woman, primigravida, who was referred at 33 wee…
View article: Supplementary Material for: Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism
Supplementary Material for: Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism Open
Donohue syndrome (leprechaunism; OMIM *246200) is a rare and often lethal autosomal recessive disease caused by mutations in the INSR gene. We report the case of a 29-year-old pregnant woman, primigravida, who was referred at 33 wee…
View article: Hypopituitarism in Patients with Blepharophimosis and <b><i>FOXL2</i></b> Mutations
Hypopituitarism in Patients with Blepharophimosis and <b><i>FOXL2</i></b> Mutations Open
Background: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2
View article: Impaired histaminergic neurotransmission in children with narcolepsy type 1
Impaired histaminergic neurotransmission in children with narcolepsy type 1 Open
Objective Narcolepsy is a sleep disorder characterized in humans by excessive daytime sleepiness and cataplexy. Greater than fifty percent of narcoleptic patients have an onset of symptoms prior to the age of 18. Current general agreement …
View article: 0953 PREVALENCE OF METABOLIC SYNDROME AND LIVER STEATOSIS IN CHILDREN WITH IDIOPATHIC NARCOLEPSY
0953 PREVALENCE OF METABOLIC SYNDROME AND LIVER STEATOSIS IN CHILDREN WITH IDIOPATHIC NARCOLEPSY Open
To evaluate the prevalence of metabolic syndrome in children with idiopathic narcolepsy. Data from 40 children (21 boys) diagnosed with idiopathic narcolepsy between 2010 and 2016 in the National Reference Center for Narcolepsy of Lyon wer…