hrp0098rfc5.3 | Growth and Syndromes | ESPE2024

Neuroradiological Findings in Noonan Syndrome: a multicentric Italian study

Patti Giuseppa , Gabriella Maiorano Nadia , Piccoli Francesca , Grazia Calevo Maria , Tamburrino Federica , Scarano Emanuela , Schiavarello Concetta , Orlandini Eleonora , Pozzobon Gabriella , Baldoli Cristina , Finamore Martina , Grandone Anna , Aiello Francesca , Cirillo Mario , Corica Domenico , Wasniewska Margherita , Cattoni Alessandro , Remida Paolo , Capalbo Donatella , Tortora Fabio , Azzolini Sara , Mansour Mariam , Felicia Faienza Maria , Palladino Stefano , Napoli Flavia , Angelelli Alessia , Di Iorgi Natascia , Rossi Andrea , Maghnie Mohamad , Severino Mariasavina

Background: Data on the neuroradiological findings in Noonan syndrome (NS) are limited.Study Design and participants: Multicentric retrospective observational study conducted in 9 Italian centers of Pediatric Endocrinology. Population includes 112 patients (62 males, 50 females; 73 PTPN11, 8 KRAS, 8 SOS1, 4 LZTR1, 4 RIT1, 4 SHOC2, 3 BRAF, 2 RAF1, 1 ERF, 1 HRAS, 1 MAP2K1, 1 MEK1, 1 PPP1CB, 1 RASA1) with diagnosis of NS ge...

hrp0086p2-p187 | Bone & Mineral Metabolism P2 | ESPE2016

Is NOTCH-Sonic Hedgehog Signalling Pathway the Missing Link Between Hajdu-Cheney Syndrome and Syringomyelia?

Patil Prashant , Dharmaraj Poonam , Fryer Alan , Didi Mohammed

Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. Syringomyelia has been reported in 5 of 75 reported cases of HCS worldwide. The mechanism for t...

hrp0086p1-p737 | Pituitary and Neuroendocrinology P1 | ESPE2016

Screening of PROP-1, LHX2 and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland

Korkmaz Huseyin Anıl , Karaarslan Utku , Eraslan Cenk , Atila Dincer , Hazan Filiz , Barısık Vatan , Sevcan Ata Emine , Etlik Ozdal , Yıldız Melek , Ozkan Behzat

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...

hrp0082p3-d3-794 | Fat Metabolism & Obesity (2) | ESPE2014

Prader–Willi Syndrome: Reports of Two Patients with Congenital Abnormalities of Kidney and Urinary Tract

Tamburrino Federica , Scarano Emanuela , Mencarelli Francesca , Perri Annamaria , Colangiulo Angela , Siroli Benedetta , Martini Anna Lisa , Mazzanti Laura

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

hrp0084p2-185 | Adrenals | ESPE2015

Severe Craniosynostosis Syndrome Associated to Salt Wasting Congenital Adrenal Hyperplasia

Beltrao Luciana Amorim , Apolinario Elisa Cordeiro , Costa Liana Capelo , Lozovei Yve , Castro Simone Martins , Rosa Rafael Fabiano Machado , Kopacek Cristiane

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

hrp0084p3-1185 | Thyroid | ESPE2015

Neonatal Hyperthyroidism with Craniolacunia

Igaki Junko , Inoue Fumitaka , Fujiu Tohru , Hatakeyama Shinitsu

Background: Overt neonatal hyperthyroidism is estimated to occur in 1–2% of offspring of pregnant women with Graves’ disease. Preterm delivery, enhancement of bone include advanced bone age, craniosynostosis, and microcephaly may be present. Ventriculomegaly and hydrocephalus may present rarely, and just three cases were reported previously. Craniosynostosis is a risk factor for delayed cerebral development, hydrocephalus, and psychomotor retardation. Craniolacunia (...

hrp0094p2-67 | Bone, growth plate and mineral metabolism | ESPE2021

X-linked hypophosphatemic rickets caused by a large deletion in PHEX gene in a Brazilian family

Chini Larissa , Cabral Larissa , Cavalieri Marilene , Isaac Alvaro , Carneiro Zumira , Hirose Thiago , Lourenco Charles ,

Background: X linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X linked dominant disorder caused by mutations in the phosphate regulating neutral endopeptidase homolog X linked (PHEX) gene, which is located at Xp22.11.Objective: To clarify the underlying mechanism of a Brazilian family with hypophosphatemic rickets whose clinical manifestations were very broad among members of different generations.<p class=...

hrp0094p2-76 | Bone, growth plate and mineral metabolism | ESPE2021

A rare cause of hypophosphatemic rickets; Non-lethal Raine syndrome

Karaguzel Gulay , Toraman Bayram , Dincer Tuba , Kayıpmaz Saadettin ,

Background: Raine syndrome (RS) also known as lethal osteosclerotic bone dysplasia, is a rare autosomal recessive bone disorder. Most of patients with RS die within the first days or weeks of life due to pulmonary hypoplasia. The causative gene FAm20C is located on chromosome 7p22.3. FAm20C is one of the genes that regulate phosphate production. Here, we present a case of RS with hypophosphatemic rickets and a new mutation in FAm2</s...

hrp0097p1-305 | GH and IGFs | ESPE2023

A rare case of microduplication 5q35.2-q35.3, also known as anti-Sotos syndrome, in a female patient.

Bianco Carlo , Montafia Ilaria , Pagliero Federica , Aquisti Giulia , Petri Antonella , Bellone Simonetta , Rabbone Ivana , Prodam Flavia , Partenope Cristina

V.C. was referred to our Centre for short stature. The mid-parental target height was 153 cm (-1,6 SDS). Her mother had one spontaneous abortion and displayed mild short stature (151,5 cm). Her father had Arnold Chiari syndrome type 1 and was 165,9 cm tall. V.C. was delivered at term after in-vitro-fertilization pregnancy with intrauterine growth retardation (IUGR) from gestational week 21. Birth weight was 2160 g (SGA, SDS -3,17); length was 45 cm (SDS -2,92); head circumfere...

hrp0095p1-196 | Thyroid | ESPE2022

Diffuse Sclerosing Variant of Papillary Thyroid Cancer in a boy with Goldenhar Syndrome

Ferrari Marta , Cerutti Matteo , Ricci Franco , Stagi Stefano

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...