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...

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 ...

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...

hrp0084p3-1070 | Hypo | ESPE2015

Severe Neonatal Hypoglycemia in the Newborn Despite Prenatal Diagnosed Cerebral Midline Malformations: a Review of Three Cases

Reschke Felix , Gemulla Gita , Flury Monika , Brenner Sebastian , Schuetzle Heike , Gurth Heidrun , Hahn Gabriele , Taut Heike , Glajzer Jack , Gottschalk Hans-Christian , Hubner Angela

Background: Brain abnormalities like cerebral midline malformations (CMM) can be detected by fetal sonography. CMM with neonatal hypopituitarism may cause severe hypoglycemia.Case presentation: We report about three cases of term eutrophic newborns, which all presented with severe neonatal hypoglycemia despite prenatally diagnosed CMM. All three patients were born vaginally and were immediately breastfed after normal postnatal adaptation. In the first ca...