hrp0089p2-p398 | Thyroid P2 | ESPE2018

Diagnosis and Clinical Course of Amiodarone Induced Hyperthyroidism in Three Adolescent Patients

Gesing Julia , Hoppmann Julia , Gebauer Roman , Pfaffle Roland , Bertsche Astrid , Kiess Wieland

Amiodarone induced hyperthyroidism is a known side effect of amiodarone treatment. In the pediatric population long-term amiodarone treatment is rarely indicated because of its severe side effects including thyroid function impairment and therefore treatment is restricted to therapy resistant arrhythmias. In the literature scarce data is available on management and therapy of amiodarone induced thyroid dysfunction at a young age. We present three adolescent patients developin...

hrp0089p1-p218 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Primary Gonadal Dysgenesis in Male 46,XY Patients with NR5A1 Variants Predominantly Affects Sertoli Cell Function

Hoppmann Julia , Werner Ralf , Lunstedt Ralf , Birnbaum Wiebke , Schwab Otfried , Marshall Louise , Wunsch Lutz , Hiort Olaf

Background: Steroidogenic factor 1 (encoded by the NR5A1 gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 are associated with a wide phenotypic spectrum in 46,XY individuals ranging from partial/complete gonadal dysgenesis or anorchia, ambiguous genitalia, hypospadias, to infertility. However, little is known about the longitudinal course of endocrine markers for Sertoli and Leydig cell func...

hrp0086p2-p857 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Case of Familial Silver-Russell Syndrome

Hoppmann Julia , Netchine Irene , Eggermann Thomas , Jamra Rami Abou , Kiess Wieland , Pfaffle Roland

Background: Silver-Russell syndrome (SRS) is a heterogeneous condition characterized by intrauterine growth restriction, relative macrocephaly at birth, postnatal growth retardation, body asymmetry, feeding difficulties/ low body mass index and dysmorphic craniofacial features. SRS is caused by DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1) on chromosome 11p15 or maternal uniparental disomy of chromosome 7 (mUPD7) in approximately 50% and 10%, respectivel...

hrp0089p2-p213 | GH & IGFs P2 | ESPE2018

Different Genetic Causes of Short Stature in a Family

Tulun Alev , Pfaffle Roland , Rockstroh Denise , Jamra Rami Abou , Schmidt Julia , Gillessen-Kaesbach Gabriele , Hoppmann Julia , Hiort Olaf

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...

hrp0089fc9.1 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Novel Variants in the POU1F1 Beta Isoform are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency

Hoppmann Julia , Rockstroh-Lippold Denise , Gergics Peter , Nakaguma Marilena , Carvalho Luciani Renata Silveira , Pfaeffle Heike , Jamra Rami Abou , Jorge Alexander , Guo Michael H. , Dauber Andrew , Keller Eberhard , Camper Sally A. , Arnhold Ivo JP , Pfaeffle Roland

Background: Hypopituitarism is characterized by deficiency of one or more anterior pituitary hormones. POU1F1 mutations are the second most frequent known cause of combined pituitary hormone deficiency (CPHD). Patients are typically deficient in GH, TSH, and prolactin, although two unrelated cases were reported with isolated GH deficiency (IGHD). To date, all POU1F1 mutations have been reported for the predominantly expressed alpha isoform, which is a transcr...