hrp0086p2-p405 | Gonads & DSD P2 | ESPE2016

Maternal Ovarian Luteoma Causing Complete Virilization of a Female Fetus

Davis Vanessa , Minutti Carla Z

Background: Maternal ovarian luteoma is a rare condition that may cause virilization of female fetuses.Case presentation: We present the case of a baby born at 29 weeks gestational age to a 20 yo mother with history of two spontaneous abortions and no live births. Physical exam after birth revealed ambiguous genitalia, with a stretched phallic length of 1 cm with hypospadias on the ventral surface of phallus and complete fusion of rugated labioscrotal fo...

hrp0095p2-178 | Growth and Syndromes | ESPE2022

A Rare Cause of Proteinuria Presenting with Short Stature, Cataract, and Dysmorphic Findings: Lowe Syndrome with A Novel de Novo Mutation in the OCRL1 Gene

Gürbüz Fatih , Bilginer Gürbüz Berrak , Özalp Yüreğir Özge , Çayır Atilla

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

hrp0095rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Dysosteosclerosis is also caused by null mutations of TNFRSF11A

Kırkgöz Tarık , Ozkan Behzat , Acar Sezer , Hazan Filiz , Ikegawa Shiro , Guo Long

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...

hrp0092p1-404 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Improvement of Final Height in Idiopathic Central Precocious Puberty is Associated with Delay of Bone Maturation with GnRH Agonist Therapy Under the Age of 7 Years

Vuralli Dogus , Gonc E. Nazli , Ozon Z. Alev , Kandemir Nurgun , Alikasifoglu Ayfer

Background: GnRHa therapy is shown to be beneficial in increasing final height when started before 6 years of age in girls with idiopathic CPP(iCPP). However controversial data exist in improvement of final height whose pubertal signs appear after age of 6.Aim: To investigate effect of age of onset of GnRHa therapy on final height n girls with iCPP, and to evaluate factors affecting height gain.<st...

hrp0092p2-223 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Long Term Effects of GnRH Agonist Therapy on BMI in Girls with Idiopathic Central Precocious Puberty

Vuralli Dogus , Ozon Z. Alev , Gonc E. Nazli , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Studies investigating effects of GnRHa therapy on body weight (BW) and BMI in subjects with CPP are generally including short term effects.Aim: To investigate changes in BMI at the beginning, during and two years after completion of GnRHa therapy to determine influential factors in girls with idiopathic CPP.Methods: Data of 138 girls who completed GnRHa therapy for iCPP...

hrp0092p2-224 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

To Whom Should Central Nervous System Imaging be Performed in Girls with Central Precocious Puberty (CPP)?

Vuralli Dogus , Gonc E. Nazli , Alikasifoglu Ayfer , Kandemir Nurgun , Ozon Z. Alev

Background: Organic lesions are present in 5-10% of cases with CPP. Determinants of an increased risk for organic pathology underlying CPP in girls are debatable. CNS imaging is recommended for girls who have pubertal signs before 6 years of age. Although neurological findings may suggest organic pathology, other clinical features and hormonal variables have not been adequately examined.Aim: To analyze clinical&h...

hrp0089p2-p308 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Inactivating Compound Heterozygous Mutation in KISS1R/GPR54: Cases of Three Siblings

Nalbantoglu Ozlem , Arslan Gulcin , Koprulu Ozge , Hazan Fılız , Gursoy Semra , Ozkan Behzat

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

hrp0086p1-p600 | Growth P1 | ESPE2016

The Influence of Recombinant Human Growth Hormone Treatment on Very Small Embryonic/Epiblast Like Stem Cells

Wedrychowicz Anna , Sielatycka Katarzyna , Kubis Ewa , Roztoczynska Dorota , Starzyk Jerzy B. , Ratajczak Mariusz Z.

Background: Present knowledge on the effects of growth hormone (GH) on aging and lifespan are controversial. Clinical data indicate that normal or high levels of GH may accelerate aging and increase the risk of cardio-vascular diseases. Very small embryonic-like stem cells (VSELs) are a population of developmentally early stem cells residing in adult tissues, which could have the potential role in aging and organ rejuvenation.Objective: The aim of the st...

hrp0082p3-d2-824 | Growth (1) | ESPE2014

GH Deficiency in a Case with Neurofibromatosis-Noonan Syndrome

Vuralli Dogus , Gonc E Nazli , Vidaud Dominique , Ozon Z Alev , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Neurofibromatosis-Noonan Syndrome (NFNS) is a distinct entity which has variable features of both neurofibromatosis 1 (NF1) and Noonan syndrome (NS). In majority of cases NF1 mutations have been demonstrated. Short stature is one of the major causes for these patients requiring medical attention. GH deficiency (GHD) may accompany in some cases with NF1 or NS cases, however there are rare case reports on NFNS receiving GH therapy.Objective and...

hrp0082p3-d1-955 | Sex Development | ESPE2014

Severe Undervirilisation in a 46,XY Case due to a Novel Mutation in HSD17B3 Gene

Alikasifoglu Ayfer , Vuralli Dogus , Hiort Olaf , Gonc E Nazli , Ozon Z Alev , Kandemir Nurgun

Background: 17-β-hydroxysteroid dehydrogenase 3 (17-β-HSD3) deficiency is a rare disorder of sex development due to impaired conversion of androstenedione to testosterone. Children with 46,XY karyotype often have female appearing external or ambiguous genitalia at birth. At the time of puberty, virilisation can occur. Therefore 46,XY patients with HSD17B3 gene defects should be raised as male.Objective and hypotheses: When a child with 46,XY ka...