hrp0094p2-90 | Bone, growth plate and mineral metabolism | ESPE2021

Changing reality: rebirth of old diseases in new circumstances. Severe vitamin D deficiency presenting as hypocalcemic seizures in a healthy adolescent after prolonged COVID-19 lock-down.

Naugolny Larissa , Rachmiel Marianna , Weintrob Naomi ,

Context: Nutritional vitamin D deficiency is rare in the high income countries; its manifestations are usually associated with the combination of accompanying risk factors, as malnutrition, chronic illness, dark skin or restricted exposure to sunlight due to cultural practices.Objective: The aim of this case report is to increase the awareness to severe vitamin D deficiency as a result of extreme indoor isolation due to ...

hrp0089p2-p023 | Adrenals and HPA Axis P2 | ESPE2018

Adrenal Crisis in Children with Adrenal Insufficiency: Prevalence and Risk Factors

Eyal Ori , Levin Yair , Oren Asaf , Zung Amnon , Rachmiel Marianna , Landau Zohar , Weintrob Naomi

Objectives: To assess the prevalence and risk factors of Adrenal crisis (AC) events in children with Adrenal insufficiency (AI) and to evaluate the effectiveness of the treatment for preventing AC.Methods: Children diagnosed with AI between 1990 and 2017 and treated with glucocorticoids at four pediatric endocrinology units in Israel were studied. Data were retrieved retrospectively from the patients’ files and they included demographic factors (age...

hrp0089fc10.6 | Late Breaking | ESPE2018

Primary Ovarian Insufficiency Incidence Rate and ETIOLOGY AMONG ISRAELI ADOLESCENTS between the Years 2000–2016 – A Multi-Center Study

Gruber Noah , Kugler Shir , de Vries Liat , Brener Avivit , Zung Amnon , Eyal Ori , Rachmiel Marianna , Koren Ilana , Tenenbaum-Rakover Yardena , Hershkovitz Eli , Landau Zohar , Oren Meirav , Eliakim Alon , Zangen David , German Alina , Majdoub Hussein , Mazor-Aronovitch Kineret , Modan-Moses Dalit , Yeshayahu Yonatan , Naugolni Larisa , Levy-Shraga Yael , Ben-Ami Michal , Brill Gherta , Levy-Khademi Floris , Avnon-Ziv Carmit , Tiosano Dov , Harel Shira , Kedem Einat , Segev-Becker Anat , Shoenfeld Yehuda , Pinhas-Hamiel Orit

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

hrp0092p1-397 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Questioning the Value of Brain MRIs in the Evaluation of Children with Isolated Growth Hormone Deficiency

Oren Asaf , Singer Dana , Rachmiel Mariana , Hamiel Uri , Shiran Shelly , Ben-Sira Liat , Schachter-Davidov Anita , Eyal Ori

Background: Isolated growth hormone deficiency (IGHD) is a relatively common disorder. Current diagnostic protocols require a brain MRI of the hypothalamus and the hypophysis after establishment of the diagnosis, with the aim of identifying structural defects and specifically rule out an underlying space-occupying lesion. An MRI scan is costly and requires general anesthesia in young children. Data on the contribution of brain MRI in diagnosing children with I...

hrp0092p1-95 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The role of Physical Activity on Postural Stability and Fitness Characteristics in Pediatric Patients with GH Deficiency

Brusa Jessica , Maggio Maria Cristina , Bellafiore Marianna , Corsello Giovanni , Palma Antonio , Messina Giuseppe

Purpose: Patients with growth hormone deficiency (GHD) show low fitness levels before GH treatment is started. Muscular strength, flexibility and postural stability are related to health and quality of life. Since it is widely recognized that physical activity increases GH secretion and GH could ameliorate fitness, if a high adherence to treatment is documented (1), the purpose of this study is to investigate any difference on posturographic parameters and mus...

hrp0092p1-392 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Do Children and Adolescents with Idiopathic short Stature show Postural Alterations? Possible Influence of SHOX Haploinsufficiency in a Pilot Study

Maggio Maria Cristina , Messina Giuseppe , Brusa Jessica , Bellafiore Marianna , Corsello Giovanni , Palma Antonio

Purpose: Needs in terms of quality of life (QoL), consisting of physical, emotional and social domains, represent a hot spot in idiopathic short stature (ISS). Between ISS, it is estimated that 12% can have SHOX deficiency. Furthermore, SHOX deficiency can affect posture and GH treatment ameliorate their QoL. Although scientific research has investigated many fields of the physical domain, very few studies highlighted how this pathological condition may af...

hrp0089p2-p010 | Adrenals and HPA Axis P2 | ESPE2018

Hypoglycemic Crisis and Salt Loss in Children with Classic Congenital Adrenal Hyperplasia

Badalucco Simona , Meroni Silvia Laura Carla , Di Lascio Alessandra , Gianninoto Moira , Stancampiano Marianna Rita , Russo Gianni

Objective: Acute adrenal crisis is one of the main concerns in children with classic congenital adrenal hyperplasia (CAH). The aim of this study was to evaluate hypoglycemic and salt-wasting episodes in children with an established diagnosis of classic 21-hydroxylase deficiency (21-OHD) after start of treatment.Methods: A retrospective observational study was conducted for 85 patients with classic CAH (68 salt-wasting and 17 simple virilizing), aged 1 to...

hrp0089p3-p310 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Poland’s Syndrome and Hypogonadotropic Hypogonadism

Stancampiano Marianna Rita , Meroni Silvia Laura Carla , Lascio Alessandra Di , Gianninoto Moira , Russo Gianni

Poland’s syndrome is characterised by unilateral absence or hypoplasia of the pectoralis muscle, associated with the ipsilateral malformation of the hand. The syndrome is usually sporadic and occurs in about 1:32.000 live births. Poland’s syndrome has been described associated with other abnormalities, including renal aplasia or hypoplasia, hemivertebra, Klippel-Feil syndrome and Moebius’ syndrome. In literature are reported six cases of Moebius syndrome associa...

hrp0089p1-p236 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Identification and Analysis of the Genetic Causes of Premature Ovarian Failure (POF) in a Cohort of Adolescent Girls

Rita Stancampiano Marianna , Laura Carla Meroni Silvia , Di Lascio Alessandra , Gianninoto Moira , Russo Gianni

Introduction: In human, the development of the embryonic gonads represents a complex process involving a large number of genes, some still unknown. Specific pathways have a crucial role for the normal ovarian development, the germ cell genomic stability and hormonal maintenance. These pathways’ dysregulation can lead to POF, clinically manifesting as the absence of pubertal onset and/or amenorrhea.Objective: To identify candidate genes responsible f...

hrp0089p3-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovotesticular Disorder of Sexual Development: 31 Cases Followed-up in a Single-Center in Brazil

Melardi Julia , Cunha Diego , Ferreira Marianna , Brigatti Nathalia , Carvalho Filomena , Cominato Louise , Steinmetz Leandra , Damiani Durval

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...