hrp0084p1-156 | Miscelleaneous | ESPE2015

Cushing Syndrome due to Adrenocortical Carcinoma in a 3-month-old Infant with a Large Interstitial Deletion of Chromosome 5q Including the APC Gene

Akkurt Halit Ilker , Schulz Esther , Reinshagen Konrad , Vater Inga , Caliebe Almuth , Johannsen Jessika

Background: Childhood adrenocortical tumours (ACT) are rare and have well been described as part of familial cancer susceptibility syndromes which are caused by single gene mutations including P53, MEN1, PRKAR1A, CTNNB1 and APC. Adenomas are the most common ACT, but adrenocortical carcinomas (ACC) occur as well. Childhood ACC can be part of the Li-Fraumeni Syndrome and Beckwith-Wiedemann syndrome. ACC can also occur in familial adenomatous polyposis coli (FAP). FAP is a colon ...

hrp0084p2-570 | Thyroid | ESPE2015

Goitrous Hypothyroidism of Pubertal Onset Caused by a Novel Mutation in DEHAL1 Gene

Schulz Esther , Iglesias Ainhoa , Akkurt Halit Ilker , Helmke Knut , Moreno Jose Carlos

Background: Iodotyrosine deiodinase (DEHAL1) is a thyroidal enzyme that deiodinates mono- and diiodtyrosines (MIT, DIT) and recycles iodine, essential for synthesis of thyroid hormone. Iodotyrosine deiodinase deficiency leads to hypothyroidism, goiter and variable mental retardation. The age for clinical onset was reportedly very diverse, allegedly related to individual iodine nutrition.Clinical case: We report on a boy, offspring of consanguineous paren...

hrp0084p3-588 | Adrenals | ESPE2015

Case Report: Hypothyroidism and Acth-Deficiency Caused by TBX 19 Mutation Coincidence or Pathogenetic Correlation?

Schulz Esther , Akkurt Halit Ilker , Muhlhausen Chris , Santer Rene , Welzel Maik , Holterhus Paul Martin

Background: Congenital isolated ACTH-deficiency is a rare disorder characterized by low plasma ACTH and cortisol levels and normal secretion of other pituitary hormones. TBX19 is a t-box transcription factor with a specific role in the differentiation of corticotroph cells. TPIT gene mutations can be found in early onset isolated ACTH deficiency.Case report: We report on a 2; 6 year old girl, offspring from consanguineous parents from Turkey, born at 40 ...

hrp0095rfc6.3 | Sex Development and Gonads | ESPE2022

Reference intervals of serum estradiol during childhood: comparing and reviewing five studies, effects of gender and age

Lamprecht Tabea , Reinehr Thomas , Kleber Michaela , Rothermel Juliane , Schulz Esther , Simic-Schleicher Gunter , Heger Sabine , Holterhus Paul-Martin , Kulle Alexandra

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...

hrp0089p3-p270 | Multisystem Endocrine Disorders P3 | ESPE2018

Case Report: Neonatal McCune–Albright Syndrome with Juvenile Ovarian Granulosa Cell Tumor in a 4 Months Old Girl

Schulz Esther , Klohs Stephan , Konigs Ingo , Maiberger Thomas , Nissen Johanna , Schafer Hansjorg , Saeger Wolfgang , Schnegg Clivia , Mir Thomas , Kozlik-Feldmann Rainer Gerhard , Akkurt Ilker

Introduction: McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic activating mutation of GNAS1 encoding the Gs-alfa subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades leading to the classical trias: polyostotic fibrous dysplasia, café-au-lait hyperpigmentation and GnRh independent precocious puberty. Early manifestation is accompanied with multiple organ involvement and may lead to ACTH-indepe...