hrp0089p2-p344 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia

Baş Firdevs , Karaman Birsen , Al Aslı Derya Kardelen , Heidargholizadeh Somayyeh , Najaflı Adam , Toksoy Guven , Poyrazoğlu Şukran , Yıldız Melek , Uyguner Oya , Başaran Seher , Darendeliler Feyza

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

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...

hrp0084fc1.6 | Adrenal | ESPE2015

An Update on Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-free Foetal DNA in Maternal Plasma

New Maria , Tong Yu , Jiang Peiyong , Pina Christian , Chan K C Allen , Khattab Ahmed , Liao Gary J W , Yau Mabel , Kim Se-Min , Chiu Rossa W K , Sun Li , Zaidi Mone , Lo Y M Dennis

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

hrp0097fc1.4 | Adrenals and HPA Axis | ESPE2023

Response to Crinecerfont Treatment in Adolescents with Classic Congenital Adrenal Hyperplasia Is Correlated with Elevated Baseline Hormone Concentrations but Not Glucocorticoid Dose

Ron S. Newfield , Sarafoglou Kyriakie , Y. Fechner Patricia , J. Nokoff Natalie , J. Auchus Richard , G. Vogiatzi Maria , S. Jeha George , Giri Nagdeep , Roberts Eiry , Sturgeon Julia , L. Chan Jean , H. Farber Robert

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal disorder characterized by deficiency of cortisol and oftentimes aldosterone, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a phase 2 study of adolescents with classic 21OHD, 14 days of treatment with the corticotropin-releasing factor type 1 receptor (CRF1) antagonist, crinecerfont, led to median percent red...

hrp0089p1-p038 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Disease Burden and Systemic Manifestations of HPP in Children Enrolled in the Global HPP Registry

Hogler Wolfgang , Langman Craig , Gomes Da Silva Hugo , Fang Shona , Linglart Agnes , Ozono Keiichi , Petryk Anna , Rockman-Greenberg Cheryl , Seefried Lothar , Kishnani Priya

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...

hrp0095p1-120 | Growth and Syndromes | ESPE2022

Mosaic sex chromosomal abnormalities in male individuals with short stature: a new role for non-conventional techniques (whole exome sequencing, genome wide array analysis, SHOX MLPA) in making the genetic diagnosis

Westra D. , Rinne T.K. , Oud M.S. , Ruiterkamp-Versteeg M.H.A. , de Leeuw N. , van der Velden A.A.E.M. , Kempers M.J.E.

The phenotype in male individuals with a mosaic sex chromosomal abnormality is heterogenous, but ambiguous genitalia, delayed puberty, disturbed spermatogenesis, and short stature are frequently seen. Genetic investigation in boys with idiopathic/isolated short stature usually includes SHOX gene analysis (sequencing and copy number detection by MLPA), genome wide array analysis, and/or whole exome sequencing (WES). In the Netherlands, conventional karyotyping is not part of th...

hrp0089rfc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Nationwide Hypophosphatemic Rickets Study

Siklar Zeynep , Turan Serap , Bereket Abdullah , Abacı Ayhan , Baş Firdevs , Demir Korcan , Guran Tulay , Akberzade Azad , Bober Ece , Ozbek Mehmet Nuri , Kara Cengiz , Poyrazoğlu Şukran , Aydın Murat , kardelen Aslı , tarım Omer , Eren Erdal , Hatipoğlu Nihal , Buyukinan Muammer , Akyurek Nesibe , Cetinkaya Semra , Bayramoğlu Elvan , Eklioğlu Beray Selver , Ucakturk Ahmet , Abalı Saygın , Gokşen Damla , Kor Yılmaz , Unal Edip , Esen Ihsan , Yıldırım Ruken , Akın Onur , Cay Atilla , Dilek Emine , Kırel Birgul , Anık Ahmet , Catlı Gonul , Berberoğlu Merih

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...

hrp0082p1-d2-149 | Growth (1) | ESPE2014

Early Development, Growth and Puberty before and During Treatment of Congenital IGHD

Samuel Keren , Kauli Rivka , Laron Zvi

Background: Congenital isolated GH deficiency (cIGHD) is a rare genetic disease occurring mostly in consanguineous families. It is caused by hGH-1 gene deletion or GHRH – receptor mutations.Aim of study: To collect retrospectively size at birth, developmental mile stones, linear and head growth and pubertal development before and during hGH treatment.Subjects: The medical charts of 37/41 patients with cIGHD (21 m, 16 f) contai...

hrp0082p2-d2-579 | Sex Development (1) | ESPE2014

Mosaicism: Study of Nine Patients

Mazzanti Laura , Baronio Federico , Ortolano Rita , Scarano Emanuela , Tamburrino Federica , Colangiulo Angela , Bettocchi Ilaria , Cassio Alessandra , Balsamo Antonio

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...