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 ...

hrp0089p3-p004 | Adrenals and HPA Axis P3 | ESPE2018

Basal Levels of 17-hydroxyprogesterone can Distinguish Isolated Precocious Pubarche from Non-Classical Congenital Adrenal Hyperplasia in Children: A Prospective Observational study

Grandone Anna , Festa Adalgisa , Mariani Michela , Luongo Caterina , Giudice Emanuele Miraglia del

Background: Basal levels of androgens, in particular 17-OHprogesterone (17OHP), are widely debated as predictors of non-classical congenital adrenal hyperplasia (NCCAH) among patients with precocious pubarche (PP). So many authors suggested the execution of ACTH stimulation test in all children with PP. The aim of our study was to identify clinical and biochemical predictors of NCCAH in children with PP.Methods: We conducted a prospective study of 92 pat...

hrp0089p1-p206 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

MKRN3 Levels in Girls with Central Precocious Puberty During GnRHa Treatment: A Longitudinal Study

Grandone Anna , Cirillo Grazia , Sasso Marcella , Luongo Caterina , Tornese Gianluca , Festa Adalgisa , Giudice Emanuele Miraglia Del

Background: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of the study is to investigate longitudinal changes in MKRN3 circulating levels in patients with CPP before and during GnRHa treatment.Me...

hrp0089p2-p268 | Growth & Syndromes P2 | ESPE2018

A New Mutation in IHH Gene Causing Severe Short Stature

Festa Adalgisa , Luongo Caterina , Grandone Anna , Cirillo Grazia , Greco Federica , Torella Annalaura , Nigro Vincenzo , Giudice Emanuele Miraglia Del

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

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...

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...

hrp0094p1-148 | Sex Endocrinology and Gonads B | ESPE2021

Central precocious puberty and sleep patterns in COVID-19 outbreak

Umano Giuseppina Rosaria , Maddaluno Ivan , Riccio Simona , Lanzaro Francesca , Antignani Rachele , Festa Adalgisa , Luongo Caterina , Giudice Emanuele Miraglia Del , Grandone Anna ,

Background: epidemiological studies reported an increased incidence of central precocious puberty (CPP) during the last year compared to previous year. Confinement measures and consequent daily routine modifications applied to contain coronavirus infectious disease-19 (COVID-19) contagion have been proposed as a cause of this phenomenon. Our study aims in investigating changes in CPP rates in a tertiary paediatric endocrinology outpatient clinic of South Italy...

hrp0094p2-70 | Bone, growth plate and mineral metabolism | ESPE2021

Phenotype characterization of a PHEX intron mutation in an Italian family affected by X linked hypoposphatemic rickets.

Aiello Francesca , Schiano di Cola Roberta , Luongo Caterina , Maltoni Giulio , Cassio Alessandra , Festa Adalgisa , Pasquali Daniela , Del Giudice Emanuele Miraglia , Grandone Anna ,

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

hrp0094p1-173 | Growth Hormone and IGFs B | ESPE2021

Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity

Cottrell Emily , Maharaj Avinaash , Williams Jack , Chatterjee Sumana , Cirillo Grazia , Giudice Emanuele Miraglia del , Festa Adalgisa , Palumbo Stefania , Capalbo Donatella , Salerno Mariacarolina , Pignata Claudio , Savage Martin O. , Schilbach Katharina , Bidlingmaier Martin , Hwa Vivian , Metherell Louise A. , Grandone Anna , Storr Helen L. ,

Context: Severe forms of growth hormone insensitivity (GHI) are characterised by extreme short stature, dysmorphism and metabolic anomalies. They are classically caused by homozygous or compound heterozygous mutations of the growth hormone receptor gene (GHR). Genetic analysis traditionally focuses on the exonic regions of genes that encode proteins rather than the intervening non-coding sequences. These seldom explored non-coding regions may harbour ...