hrp0086rfc12.4 | Neuroendocrinology | ESPE2016

Molecular Screening of MKRN3, DLK1 and KCNK9 Genes in Central Precocious Puberty

Grandone Anna , Sasso Marcella , Cirillo Grazia , Luongo Caterina , Mariani Michela , del Giudice Emanuele MIraglia , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene has been found mutated for the first time in 5 families with familial precocious puberty. The inheritance pattern is particular being the MKRN3 a maternal imprinted gene. Moreover in a recent genome wide association study common intronic or intragenic variants harbouring this gene and other two imprinted genes, D...

hrp0086p1-p605 | Growth P1 | ESPE2016

A New Case of Intragenic Deletion in IGF1R with Very Mild Phenotype

Coppola Ruggero , Luongo Caterina , Nacca Raffaella , Sasso Marcella , Grandone Anna , del Giudice Emanuele Miraglia , Perrone Laura

Background: IGF1R mutations are characterized by IGF-1 resistance causing impaired fetal and postnatal growth. Several reports in children with heterozygous defects of IGF1R have demonstrated a variable phenotype, which can be associated to microcephaly, dismorphic features and mild developmental delay.Case presentation: We report of an 8-years-old boy, who came at our observation with short stature (−3.2 SDS) and mild microcephal...

hrp0082fclb5 | Late Breaking Abstracts | ESPE2014

CB2 Polymorphism Could Modulate the Relationship Between Childhood Obesity and Age at Menarche

Grandone Anna , Bellini Giulia , del Giudice emanuele Miraglia , Perrone Laura , Rossi Francesca

Background: There is an emerging evidence that the ovary may be an important site where genes such as LIN28b, whose polymorphisms has been strongly associated to age at menarche, could modulate the timing of puberty. Recent data suggest that the endocannabinoid system plays a role in folliculogenesis and ovulation, through cannabinoid receptor 2 (CB2) expressed in the ovary. On the other hand childhood obesity is associated with increased likelihood of early menarche,...

hrp0092p1-93 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Persisting Embryonal Infundibular Recess in a Patient with Morning Glory Syndrome and Multiple Pituitary Deficiencies

FESTA ADALGISA , GRANDONE ANNA , LUONGO CATERINA , CIRILLO GRAZIA , del GIUDICE EMANUELE MIRAGLIA

A 5-year old boy was referred to our clinic for short stature reported since first years of life. At birth weight and length were normal, psychomotor development was regular, target height was 165.9 cm. At 7 months of life he was subjected to correction of cleft lip-palate. Since 3 years of life he suffered from headache, for which a fundoscopy was performed and revealed a Morning Glory Disc Anomaly (MGDA) of the right eye. At our first visit height was 98.2 cm (-2.5DS), body ...

hrp0084p2-378 | Fat | ESPE2015

Early-Onset Obesity and Adrenal Insufficiency Associated with a Homozygous POMC Mutation

Meloni Antonella , Casini Maria Rosaria , Del Giudice Emanuele Miraglia , Boccone Loredana

Background: Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by mutations in the gene encoding pro-opiomelanocortin (POMC). POMC is the precursor to bioactive peptides (ACTH, β-endorphin, and α-β-γ-MSH). Mutations that inactive POMC typically result in secondary adrenal insufficiency, severe obesity and red hair; fewer than 50 affected individuals have been reported in the literature.Case presenta...

hrp0092p1-111 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

PROKR2 in Girls with Idiopathic Central Precocious Puberty

Grandone Anna , Luongo Caterina , Cassio Alessandra , Salerno Mariacarolina , Tornese Gianluca , Festa Adalgisa , del Giudice Emanuele Miraglia , Cirillo Grazia

Introduction: PROKR2 is a 384-amino acid G-protein-coupled receptors (GPCR) that regulates GnRH secretion in the hypothalamus. PROKR2 mutations have been described as cause of a certain percentage of of hypogonadotropic hypogonadism and Kallmann syndrome.In 2017 a heterozygous frameshift gain of function mutation of PROKR2 was identified in a 3.5-year-old girl with central precocious puberty (CPP).The aim of our st...

hrp0089lb-p1 | Late Breaking P1 | ESPE2018

A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure

Cottrell Emily , Maharaj Avinaash , Chatterjee Sumana , Grandone Anna , Cirillo Grazia , del Giudice Emanuele Miraglia , Metherell Louise A , Storr Helen L

Background: Growth Hormone Insensitivity (GHI) is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature associated with high GH and low IGF-I levels and often have midfacial hypoplasia (typical Laron syndrome facial features). Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c. 618+792A>G). The inclusion of this 108bp pseudoexon is predicted to lead to in-frame insertion of...

hrp0086p1-p810 | Syndromes: Mechanisms and Management P1 | ESPE2016

Phenotypic Variability in a Family with a New SHOX Gene Mutation

Festa Adalgisa , Grandone Anna , Luongo Caterina , Sasso Marcella , Mariani Michela , Del Giudice Emanuele Miraglia , Minari Roberta , Vottero Alessandra , Perrone Laura

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...

hrp0084p1-91 | Growth | ESPE2015

Mutation in RTTN, a Regulator of Ciliary Function, Causes a Complex Syndrome Characterized by Severe Congenital Microcephaly, Lissencephaly and Profound Growth Failure in Two Siblings

Grandone Anna , Nigro Vincenzo , Torella Annalaura , Festa Adalgisa , Luongo Caterina , Marzuillo Pierluigi , Coppola Ruggero , del Giudice Emanuele Miraglia , Perrone Laura

Background: Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation and microcephaly that is prenatal in onset. Recently mutations in genes involved in ciliogenesis have been described in patients with primordial dwarfism phenotype. In 2012 mutations in rotatin (RTTN), a protein involved in cilia structure and function, have been described in in individuals with bilateral diffuse polymicrogyria, but not growth failure.Case pr...

hrp0084p3-838 | Fat | ESPE2015

Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance

Grandone Anna , Del Giudice Emanuele Miraglia , Cirillo Grazia , Di Sessa Anna , Umano Giuseppina , Marzuillo Pierluigi , Capristo Carlo , Perrone Laura

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...