Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 2

Adrenals & HP Axis (1)

hrp0082p2-d2-270 | Adrenals & HP Axis (1) | ESPE2014

Osteoporosis in Triple A Syndrome: an Overlooked Symptom of Unexplained Etiolaogy

Dumic Miroslav , Rojnic Putarek Natasa , Kusec Vesna , Barisic Nina , Koehler Katrin , Huebner Angela

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

hrp0082p2-d2-271 | Adrenals & HP Axis (1) | ESPE2014

The Results of CYP21A2 Mutation Analysis in Adolescent with Polycystic Ovary Syndrome

Yagli Colakoglu Elif , Bulus Derya , Andiran Nesibe , Ufuk Isin Ugur

Background: Diagnosis of polycystic ovary syndrome (PCOS) in the adolescent is difficult due to high background rate of menstrual irregularity, high prevalence of polycystic morphology and hyper and rogenic features in this population. Also late onset congenital adrenal hyperplasia (LOCAH) mimics PCOS in this period. It is important to distinguish these entities because of the differences in their therapy. The study aimed to find out the frequency of LOCAH in patients who diag...

hrp0082p2-d2-272 | Adrenals & HP Axis (1) | ESPE2014

Timing of precocious pubarche in girls: Does a contemporary subgroup exist?

Tahmiscioglu Feride , Ercan Oya , Ozcabi Bahar , Evliyaoglu Olcay

Background: In 2012, a phenomenon of early isolated gonadotropin-independent thelarche among contemporary girls was reported.Objective and hypotheses: We wanted to evaluate whether a contemporary isolated early pubarche also exists. One way of looking into this is by investigating the age of pubarche in a group of girls with premature pubarche (PP) over time. If some girls had earlier pubarche, then, we would expect a subgroup (i.e. those younger than 8 ...

hrp0082p2-d2-273 | Adrenals & HP Axis (1) | ESPE2014

Nonclassic Lipoid Adrenal Hyperplasia with R272C STAR Mutation: a Case Report

Miyoshi Tatsuya , Takagi Masaki , Hasegawa Yukihiro

Background: The StAR protein is crucial for the transportation of cholesterol to the mitochondria, where it is converted to pregnenolone. Complete loss of StAR protein function impairs adrenal and gonadal steroidogenesis since the fetal period, called classic lipoid adrenal hyperplasia (CLAH). Nonclassic lipoid adrenal hyperplasia (NCLAH) is a recently recognized disorder, with partial StAR protein function, and several mutations causing NCLAH have been reported.<p class="...

hrp0082p2-d2-274 | Adrenals &amp; HP Axis (1) | ESPE2014

Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family

Ponmani Caroline , Atterbury Abigail , Seniappan Senthil , Schoenmakers Nadia , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

hrp0082p2-d2-275 | Adrenals &amp; HP Axis (1) | ESPE2014

Non-virilizing Congenital Adrenal Hyperplasia in a Female Patient: Report of a Novel HSD3B2 Mutation

Probst-Scheidegger Ursina , Fluck Christa , l'Allemand Dagmar , Camats Nuria

Background: 3β-Hydroxysteroiddehydrogenase (3β-HSD) is a key enzyme in steroidogenesis, responsible for the conversion of Δ5- to Δ4-steroids. Deficiency in 3β-HSD results in congenital adrenal hyperplasia (CAH). The molecular etiology of 3β-HSD deficiency lies in a defect in HSD3B2 gene.Clinical case: A healthy newborn girl was admitted on day of life (DOL) 8 due to increased 17-OH-progesterone (17OHP) in newborn sc...

hrp0082p2-d2-276 | Adrenals &amp; HP Axis (1) | ESPE2014

Waist-to-Height Ratio, Waist-to-Hip Ratio, Waist Circumference, and BMI in Children and Adolescents with Classical Congenital Adrenal Hyperplasia Due to 21-Hydoxylase Deficiency (CAH)

Dorr Helmuth G. , Marx Michaela , Herzog Nadine , Gassmann Katja , Pichl Carolin , Volkl Thomas

Background: It has been reported that children with congenital adrenal hyperplasia (CAH) have higher BMI, increased body fat and greater waist-to-hip ratio (WHR) than control children.Objective and hypotheses: Recently it was speculated that the screening potential of waist-to-height ratio (WHtR) and waist circumference (WC) for cardio-metabolic risk in adults is higher than WHR and BMI.Method: To review this hypothesis, we studied...

hrp0082p2-d2-277 | Adrenals &amp; HP Axis (1) | ESPE2014

Psychological and Behavioral Outcome of Female Patients with Congenital Adrenal Hyperplasia

Ashmawy Abeer El , Abdou Amany , Nasr Mohamed , Tawfik Sameh , Abdelghaffar Shereen , Ibrahim Amany

Background: Children with congenital adrenal hyperplasia (CAH) may suffer from multiple psychological troubles.Objective and hypotheses: To assess the psychological and behavioral outcome of genetically females with classic CAH and to study the extent to which these behavioral changes could be attributed to high levels of androgens in the prenatal and postnatal periods.Method: 51 genetically females with CAH, representing Prader st...

hrp0082p2-d2-278 | Adrenals &amp; HP Axis (1) | ESPE2014

Do Neonates Need a Short Synacthen Test to Investigate the Adrenal Axis?

Niranjan Usha , Franklin Victoria , Bashir Imran , Martin Sarah , Gibson Alan , Wright Neil , Dimitri Paul

Background: There is limited evidence regarding the most appropriate method to investigate adrenal dysfunction in neonates. Our unit in Sheffield, UK measures a series of three serum cortisol levels to determine the need for a short synacthen test (SST). Other units use the SST as the first-line investigation in suspected adrenal insufficiency in neonates; however SST is more invasive with anaphylactic risk.Objective and hypotheses: To determine the prop...

hrp0082p2-d2-279 | Adrenals &amp; HP Axis (1) | ESPE2014

Genotype–Phenotype Discordant Patients with Homozygous Intron 2 Mutation (IVS2) of CYP21 Gene

Camtosun Emine , Siklar Zeynep , Ruhi Hatice Ilgin , Kutlay Nukhet Yurur , Kocaay Pinar , Tukun Ajlan , Berberoglu Merih

Background: 21-Hydroylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH) and resulted from CYP21 gene mutations. Genotype and phenotype are usually concordant. Homozygous intron 2 splice mutation (IVS2/IVS2) is frequently associated with severe enzyme deficit, and causes classical CAH. Here, we present genotype–phenotype discordant members of two different families with IVS2/IVS2 mutation.Family 1: First child of family ...

hrp0082p2-d2-280 | Adrenals &amp; HP Axis (1) | ESPE2014

A 26-Day-Old Japanese Girl with Aldosterone Synthase Deficiency Caused by a Novel Mutation in the CYP11B2 Gene

Koyama Satomi , Tsuboi Tatsuo , Shimura Naoto , Nakamura Akie , Tajima Toshihiro , Arisaka Osamu

Background: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease, presenting with salt wasting and failure to thrive in early infancy. It is caused by inactivating mutations of the CYP11B2 gene.Objective and hypotheses: Our objective was to describe a Japanese patient with ASD, who presented with failure to thrive and salt wasting.Method: We present a case report and investigate molecular analysis of CYP11B2 ...

hrp0082p2-d2-281 | Adrenals &amp; HP Axis (1) | ESPE2014

Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution

Luzuriaga Cristina , Bertholt Maria Laura , Naranjo Cristina , Ezquieta Begona

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

hrp0082p2-d2-282 | Adrenals &amp; HP Axis (1) | ESPE2014

Steroid 11β-Hydroxylase Deficiency Due to CYP11B1 Mutations in Females with Hyperandrogenemia

Shammas Christos , Byrou Stefania , Phedonos Alexia AP , Nicolaou Stella , Toumba Meropi , Skordis Nicos , Neocleous Vassos , Phylactou Leonidas A

Background: More than >90% of cases of congenital adrenal hyperplasia (CAH) are caused by 21-hydroxylase deficiency, steroid 11β-hydroxylase deficiency accounts for 5–8% of cases.Objective and hypotheses: To seek evidence on the prevalence of CYP11B1 mutations in prepubertal girls, adolescents and adult females with clinical signs of hyperandrogenemia.Method: The study included 31 girls with premature adrenar...