hrp0092p1-66 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Diagnostical Approach to Adrenal Failure in Symptomatical Preterm Infants – is Saliva Derived Free Cortisol the Solution?

Reschke Felix , Sebastian Brenner , Angela Huebner

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

hrp0095p1-225 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Nephrolithiasis and hypoparathyroidism with normocalcemia – detecting a new mutation solves the mystery

Reichardt Susen , Mayer Brigitte , Quitter Friederike , Huebner Angela

We report on a 17-year-old patient with hypoparathyroidism which was noticed during the diagnosis of a first renal colic a year and a half ago. At that time, a prevesical ureter stone on the right could be depicted sonographically, which disappeared spontaneously. Initially calcium levels in serum and urine were reported to be normal. However, a slight hypercalcemia and hypercalciuria as well as high normal vitamin D levels without vitamin D substitution were detected intermit...

hrp0095p1-229 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Neurological symptoms leading to Pseudohypoparathyreoidism 1B (iPPSD3)

Flury Monika , Unger Elisabeth , Porrmann Joseph , Huebner Angela

Background: Pseudohypoparathyroidism is a rare congenital disorder presenting with variable symptoms and features. Since 2016 a new international nomenclature subclassifies the different forms of pseudohypoparathyreoidism as inactivating PTH/PTHrP signalling disorders (iPPSD). Pseudohypoparathyreoidism 1A (iPPSD2) and 1B (iPPSD3) are mainly characterized by resistance of parathyroid hormone (PTH) with high serum PTH levels and thyrotropin (TSH) resistance. In ...

hrp0092p2-205 | Multisystem Endocrine Disorders | ESPE2019

Subcutaneous Ossifications in Children - Think About AHO!

Flury Monika , Quitter Friederike , Hiort Olaf , Huebner Angela

Background: Pseudohypoparathyroidism (Albright hereditary osteodystrophy (AHO)) is a rare congenital disorder mainly affecting bone and thyroid metabolism as a result of resistance of parathyroid hormone (PTH) and thyrotropin (TSH), gonadotropins, growth hormone-releasing hormone (GHRH) and calcitonin in the target tissues. According to the consensus statement "Diagnosis and management of pseudohypoparathyroidism and related disorders" published in 201...

hrp0084fc1.5 | Adrenal | ESPE2015

Atypical Presentation of Six Patients with Mutations in the Side Chain Cleavage Enzyme CYP11A1

Chan Li , Huebner Angela , Spoudeas Helen , Cheetham Tim , Metherell Louise

Background: Mutations in the side chain cleavage enzyme, (CYP11A1) cause congenital adrenal insufficiency, with complete or partial 46XY sex reversal. The disorder manifests with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system.Objective and hypotheses: To obtain a genetic diagnosis in six patients with adrenal insufficiency of unknown aetiology. Patients 1 and 2 are sisters with ACTH resistance, having...

hrp0092fc13.1 | Adrenals and HP Axis | ESPE2019

Peptide MC2R Antagonists as a New Potential Therapeutic Approach for Congenital Adrenal Hyperplasia

Schubert Tina , Nicke Lennart , Schanze André , Reisch Nicole , Geyer Armin , Koehler Katrin , Huebner Angela

Current hormone substitution therapy of patients with congenital adrenal hyperplasia (CAH) is suboptimal and cannot mimic physiological daily rhythms of hormone secretion. As supra-physiological corticoid doses are necessary to avoid adrenal androgen excess, patients show substantially increased comorbidities such as hyperglycemia, arterial hypertension, reduced growth and osteoporosis. Moreover plasma ACTH is often inadequately suppressed, resulting in undesired excess adrena...

hrp0089p1-p199 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Growth Hormone Deficiency and Cryptorchidism in a Family with Xq26.3 Duplication and Position Effect on SOX3

Reschke Felix , Jahn Arne , Tzschach Andreas , Schallner Jens , Hagen Maja von der , Huebner Angela

SOX3 is located on the X-chromosome (Xq27.1) and encodes a SRY-related protein that acts as a developmental transcription factor. Copy Number Variations (losses and gains), mutations of polyalanine stretches (deletions or expansions) and missense mutations of SOX3 have been associated with growth hormone deficiency with incomplete penetrance, hypogonadism, differences of sexual development and variable additional endocrine disorders (MIM #312000 and #300123)....

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...

hrp0084p3-1208 | Thyroid | ESPE2015

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHB Gene – Just Think about It!

Flury Monika , Naeke Andrea , Di Donato Nataliya , Hahn Gabriele , Huebner Angela

Background: Congenital primary hypothyreoidism occurs in about 1 of 3 600 life births and is usually detected with newborn screening. Early levothyroxine treatment is the prerequisite for normal psychomotor development of affected children. However, patients suffering from congenital central hypothyroidism are missed by the screening procedure, which may lead to delayed diagnosis and therapy. In very rare cases central hypothyroidism is caused by isolated TSH deficiency due to...

hrp0097p1-586 | Thyroid | ESPE2023

Hyperthyroidism caused by severe bacterial infection

Flury Monika , Gita Gemulla , Reichardt Susen , Stamos Kristina , Taut Heike , Hahn Gabriele , Huebner Angela

We report on a nearly 4-year-old girl who presented to the emergency room of our paediatric clinic with high fever and poor general condition, swelling of the neck and swallowing difficulties. Laboratory chemistry showed a marked hyperthyroid metabolic state, so that initially a thyrotoxic crisis in Graves' disease was considered (TSH 0.03 mU/L (-), fT4 28.10 pmol/l (+)). Therefore, a short-term therapy with thiamazole was given. The thyroid autoantibodies were negative. ...