hrp0092p2-192 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and the Impact on Final Height: Report of a Pedigree

Maggio Maria Cristina , Mulè Flavia , Cardella Francesca , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...

hrp0089p3-p245 | Growth & Syndromes P3 | ESPE2018

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

Maggio Maria Cristina , Ragusa Saveria Sabrina , Miceli Roberto , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

hrp0086p1-p830 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Maggio Maria Cristina , Malacarne Michela , Vergara Beatrice , Corsello Giovanni

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...

hrp0082p2-d2-609 | Thyroid (1) | ESPE2014

Auxological Pattern, BMI and Endocrine Follow Up in Children with Congenital Hypothiroidism: the Data of the Pediatric Clinic of Palermo

Maggio Maria Cristina , Mineo Mariagrazia Irene , Maltese Marilena , Corsello Giovanni

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

hrp0082p3-d2-638 | Adrenals &amp; HP Axis (1) | ESPE2014

Addison Disease and Atrophic Gastritis: High Persistent ACTH Levels Although an Adequate Treatment

Prinzi Eugenia , Serraino Francesca , Maggio Maria Cristina , Corsello Giovanni

Background: Primary Addison’s disease (AD) is a rare endocrine condition, with reduced or absent secretion of adrenal hormones. Steroid replacement therapy normalizes endocrine assess and the quality of life. More than a half of patients display additional autoimmune conditions, which represent a considerable clinical concern.Objective and hypotheses: Antiparietal cells antibodies (APC-Ab) are commonly found in patients with autoimmune Addison’...

hrp0082p3-d2-990 | Thyroid (1) | ESPE2014

Bmi and Auxological Follow Up in Children with Hashimoto Thyroiditis: Utility of a Phisical Activity Program

Corsello Giovanni , Maltese Marilena , Mineo Mariagrazia Irene , Maggio Maria Cristina

Background: Hashimoto thyroiditis (HT) is the most frequent acquired thyroid disease in childhood and adolescence. However it can evolve silently also for a long period, without signs and/or symptoms evocative of the diagnosis.Objective and hypotheses: A late diagnosis can reduce growth velocity, increase weight and particularly BMI, with an increased risk of obesity in pubertal age.Method: We analyzed 39 patients (age: 11.3±3...

hrp0095p1-528 | Growth and Syndromes | ESPE2022

The SHOX gene between duplication and deletion: when the follow-up guides the treatment

Maggio Maria Cristina , Simona Alaimo , Flavia Volpe , Vincenzo Antona , Giovanni Corsello

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

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...

hrp0089p1-p064 | Diabetes &amp; Insulin P1 | ESPE2018

Efficacy of Mecasermin Treatment and Long-Term Survival in a Child with Leprechaunism

Maggio Maria Cristina , Barbetti Fabrizio , Vitaliti Marcello , Ragusa Saveria Sabrina , Vitaliti Giuliana , Corsello Giovanni

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...