hrp0089p1-p214 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

In Silico and In vitro Studies of Human SRD5A2 Variants in Search for Activating Variants Explaining Androgen Excess Reveal Additional Loss of Function Variants

Katharopoulos Efstathios , Sauter Kay-Sara , Pandey Amit V , Fluck Christa E

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...

hrp0089p2-p349 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A 46,XX Female with WT1 Mutation, Congenital Nephrotic Syndrome and a Complex Disorder of Sex Development

Ciccone Sara , Bizzarri Carla , Picca Stefano , Orazi Cinzia , Lucchetti Chiara , Cappa Marco

Background: The Wilms tumor suppressor gene 1 (WT1) is essential for kidney and gonadal development. WT1 gene mutations are associated with two syndromes called Denys-Drash (DDS) and Frasier (FS) that clinically overlap and differ in the type of mutation and in the age at nephropathy onset. In 46,XY subjects WT1 mutations are associated with steroid-resistant nephrotic syndrome (NS), Wilms tumor, disorder of sex development (DSD) with dysgenetic gonads and gonadoblastoma risk....

hrp0086rfc12.7 | Neuroendocrinology | ESPE2016

Prevalence of Organic Lesions in Males with Central Precocious Puberty

Pedicelli Stefania , De Matteis Sara , Scire Giuseppe , Cappa Marco , Cianfarani Stefano

Background: Organic lesions in males with central precocious puberty (CPP) have been reported in 40% of cases. This high prevalence decreases (20–29%) when patients with previously diagnosed alterations of central nervous system (CNS) are excluded. Reported predictors of organic lesions are age at puberty onset, bone age, BMI, LH peak response and testosterone levels.Objective and hypotheses: To determine the prevalence and type of intracranial lesi...

hrp0086p1-p482 | Fat Metabolism and Obesity P1 | ESPE2016

Changes in Urine and Plasma Metabolomics Profiles after a Lifestyle Intervention Program in Obese Prepubertal Children

Jesus Leal Witt Maria , Llobet Marina , Samino Sara , Rodriguez Miguel A. , Yanes Oscar , Ramon Marta , Lerin Carles

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving children’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...

hrp0082p2-d1-261 | Adrenals & HP Axis | ESPE2014

Paradoxical Increase in Urinay Cortisol Excretion in Children with Primary Pigmented Nodular Adrenal Disease

Fraga Ana Beatriz , Anselmo Joao , Franco Catarina , Vaz Sara , Gomes Fernanda

Background: Pediatric Cushings syndrome is a rare condition and its diagnosis is always a challenge to the clinicians. The hypercortisolism can be classified as ACTH-dependent (Cushings disease) and ACTH-independent. The latter group comprises several hereditary conditions. One of them is primary pigmented nodular adrenocortical disease (PPNAD) which occurs isolated or as part of Carney complex (CNC). It is known that adult patients with Cushings syndrome due PPNAD exhibited a...

hrp0082p2-d1-371 | Fat Metabolism & Obesity | ESPE2014

Replacement of the Neonatal Leptin Surge During Maternal Deprivation Normalizes Some Endocrine Parameters but Exacerbates Others

Mela Virginia , Lopez-Rodriguez Alvaro , Penasco Sara , Barrios Vicente , Argente Jesus , Viveros Maria-Paz , Chowen Julie A

Introduction: Maternal deprivation (MD) during neonatal life has diverse long-term effects, including modification of metabolism. Some of these effects are sexually dimorphic. We have previously reported that MD in rats blocks the physiological neonatal leptin surge, which could underlie the long-term metabolic changes.Hypothesis: We hypothesized that replacement of leptin during MD would normalize long-term endocrine changes.Metho...

hrp0082p2-d3-437 | Growth Hormone (2) | ESPE2014

Long-Term Effects of GH Replacement Therapy on Thyroid Function in GH Deficiency Children

Esposito Andrea , Donato Iolanda Di , Rezzuto Martina , Alfano Sara , Moracas Cristina , Capalbo Donatella , Salerno Mariacarolina

Background: Several studies have investigated the effects of GH replacement therapy (GHRT) on thyroid function in children with GH deficiency (GHD) leading to contrasting results. Indeed, GHRT has been reported to affect the peripheral metabolism of thyroid hormones, to alter TSH secretion by pituitary and to unmask secondary hypothyroidism.Objective and hypotheses: To evaluate long-term effects of GHRT on thyroid function in a large cohort of GHD childr...

hrp0082p2-d3-485 | Hypoglycaemia | ESPE2014

Nocturnal Hypoglycaemia in Diabetic Children: Continuous Glucose Monitoring Reveals More of the Iceberg

Bachmann Sara , Martin Eva , Ritschard Vreni , Hess Melanie , Jockers Katharina , Vuissoz Jean-Marc , Zumsteg Urs

Background: Hypoglycaemia is the most common and threatening complication in diabetic children. Nocturnal hypoglycaemia is mostly unrecognised and asymptomatic, but recurrent mild hypoglycaemia at night can lead to hypoglycaemia unawareness and reduced performance at daytime.Aims: To evaluate frequency and duration of nocturnal hypoglycaemia in type 1 diabetic children and to identify risk factors for such events.Patients/methods: ...

hrp0082p2-d3-501 | Perinatal and Neonatal Endocrinology | ESPE2014

Kabuki 47,XXY Syndrome: a Case Report

Pedicelli Stefania , Marini Romana , Ciccone Sara , Cambiaso Paola , Digilio Maria Cristina , Bizzarri Carla , Cappa Marco

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

hrp0082p2-d2-521 | Pituitary (1) | ESPE2014

Association of Pituicytoma and Cushing’s Disease: a Rare Pediatric Case

Ciccone Sara , Cambiaso Paola , Longo Daniela , Marini Romana , Pedicelli Stefania , Deodati Annalisa , Galassi Stefania , Cappa Marco

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...