hrp0095p1-429 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Progressive pseudorheumatoid dysplasia as a cause of short stature

Purushothaman Preetha , F Gevers Evelien

Introduction: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic bone disorder characterised by the progressive degeneration of articular cartilage leading to pain, stiffness, joint enlargement and short stature. PPRD occurs due to a mutation in cellular communication network factor 6 (CCN6)/Wnt1-inducible signalling protein 3 (WISP3) gene, encoding a 354 amino acid signalling factor involved in BMP/WNT signalling and mitochondri...

hrp0092p1-2 | Adrenals and HPA Axis | ESPE2019

Software-assisted Analysis of the Urinary Steroid Metabolom in Treated Children with Classic Congenital Adrenal Hyperplasia

Kamrath Clemens , Hartmann Michaela F. , Wudy Stefan A.

Background: Treatment of children with classic congenital adrenal hyperplasia (CAH) is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined.Objective: Retrospective software-assisted analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of children with CAH.<p class="abstex...

hrp0089rfc1.5 | Adrenals &amp; HPA Axis | ESPE2018

Quantitative Urinary GC–MS Based Steroid Analysis for Treatment Monitoring of Adolescents and Young Adults with Autoimmune Primary Adrenal Insufficiency

Kamrath Clemens , Hartmann Michaela F , Wudy Stefan A

Background: Autoimmune primary adrenal insufficiency (PAI) is a rare and life-threatening disease. Standard replacement therapy consists of multiple daily doses of hydrocortisone combined with fludrocortisone. A recent Endocrine Society guideline argued against hormonal monitoring of glucocorticoid replacement. However, about 50% of adolescents and young adults (AYAs) with chronic diseases are non-adherent to their prescribed treatment regimens. Pervasive nonadherence places p...

hrp0082p3-d1-823 | Growth | ESPE2014

Three-Years Height Outcome During rhGH Therapy in Severe Short Subjects Affected by Skeletal Dysplasias

Massart F , Gnesi L , Baggiani A , Miccoli M

Background: Skeletal dysplasias comprise heterogeneous disorders often characterised by short stature with abnormalities of one or more of epiphysis, metaphysis or diaphysis. Over 200 types of skeletal dysplasias are identified, most of which are autosomal dominantly inherited. Actually, surgery has attempted to correct bone deformities but drug therapy for improving their severe short stature has been rarely attempted.Objective and hypotheses: Administr...

hrp0082p3-d2-854 | Growth (3) | ESPE2014

Descriptive Analysis of Medication Adherence for Patients Treated with GH Therapy

Michels S L , Uribe C , Li Y , Meletiche D M , Velez F F , Locklear J C

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

hrp0092p1-301 | Adrenals and HPA Axis (2) | ESPE2019

Height in Infants Aged 1 Year with Classic Congenital Adrenal Hyperplasia is Related to their Urinary Steroid Metabolome

Kamrath Clemens , Friedrich Clemens , Hartmann Michaela F. , Wudy Stefan A.

Background: Controlling therapy of infants, especially from neonates onwards, with classic congenital adrenal hyperplasia (CAH) is challenging due to the lack of reference values.Methods: We retrospectively analyzed 158 spot urinary steroid hormone metabolite profiles determined by gas chromatography–mass spectrometry (GC-MS) of 60 infants aged 0–4.2 years with classic 21-hydroxylase deficiency (21-OHD) on hydr...

hrp0089p1-p011 | Adrenals and HPA Axis P1 | ESPE2018

Characterizing the Steroidome in Ammniotic Fluid of Mid-gestation by LC-MS/MS

Wang Rong , Tiosano Dov , Hartmann Michaela F , Wudy Stefan A

The amniotic fluid (AF) milieu is complex and essential to fetal well-being. Here we present a new LC-MS/MS method for the targeted metabolomics analysis of 20 unconjugated and conjugated steroids in 65 AF samples during mid-gestation. Sample preparation included protein precipitation, centrifugation, solid phase extraction and derivatization. We measured progesterone (Prog), 17α-hydroxyprogesterone (17OHProg), testosterone (T), estrone (E1), estradiol (E2), estriol (E3),...

hrp0086p1-p22 | Adrenal P1 | ESPE2016

An Assessment of the Hypothalamic–Pituitary–Adrenal Axis in Children with Prader–Willi Syndrome

Kyriakou Andreas , Lewis Sarah , Coveney John , Roche Edna F.

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

hrp0086p2-p646 | Growth P2 | ESPE2016

Metabolic Parameters and Glucose Homeostasis in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , McMillan M , Ahmed S F , Shaikh M G

Background: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...

hrp0086p2-p706 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Managed with Fluid Restriction and Salt Supplementation

Amato Lisa A , Verge Charles F , Walker Jan L , Neville Kristen A

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...