hrp0092fc10.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Investigating the Roles of Androgens in Male Reproductive Development, Maintenance and Function by Characterisation of Androgen and Cortisol Deficient 11ß-Hydroxylase Mutant Zebrafish Lines

Oakes James A , Storbeck Karl-Heinz , Cunliffe Vincent T , Krone Nils P

The zebrafish is established as an important model system for studying development and disease, and characterisation of the developmental and functional roles of steroids is crucial for its effective employment in this remit. Whilst oestrogens are known to be essential for female development in zebrafish, the roles of androgens in the development, maintenance and function of the male reproductive system remain unclear.In order to investigate these proces...

hrp0092fc15.3 | Late Breaking Abstracts | ESPE2019

The P450 Side-Chain Cleavage Isozyme Cyp11A2 Facilitates Interrenal and Gonadal Steroid Hormone Biosynthesis in Developing and Adult Zebrafish

Li Nan , Oakes James A , Storbeck Karl-Heinz , Cunliffe Vincent T , Krone Nils P

Cytochrome P450 side-chain cleavage enzyme, encoded by the CYP11A1 gene, catalyzes the first and rate-limiting step of steroid hormone biosynthesis. Previous morpholino knockdown studies described the divergent functions of the two cyp11a paralogs in zebrafish. Cyp11a1 has been suggested to be required for early development, whereas cyp11a2 is a functional equivalent of human CYP11A1 and is essential for the initiation and maintenan...

hrp0092p1-16 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Normocalcemic Hyperparathyroidism in Children

Papadimitriou Dimitrios T. , Dermitzaki Eleni , Kleanthous Kleanthis , Papadimitriou Anastasios , Mastorakos George

Normocalcemic primary hyperparathyroidism (NPHPT) has been recognized as a variant of primary hyperparathyroidism (PHPT) and it is characterized by elevated PTH with persistently normal concentrations of albumin-adjusted total and ionized calcium. It is related to increased risk in development of osteopenia/osteoporosis as well of parathyroid adenoma and hypercalcemia/hypercalciuria. In order to identify biochemical disorders of PTH in normocalcemic children we performed in al...

hrp0092p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Dual X-ray Absorptiometry in Children With Hypophosphatasia Treated with Asfotase Alfa: A Pooled Post Hoc Analysis

Simmons Jill H. , Rush Eric T. , Petryk Anna , Zhou Shanggen , Martos-Moreno Gabriel Á.

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

hrp0092p1-241 | Multisystem Endocrine Disorders | ESPE2019

A Novel DCAF17 Homozygous Mutation in a Girl with Woodhouse-Sakati Syndrome and its Role in the Endocrine Glands

Kurnaz Erdal , Türkyilmaz Ayberk , Yarali Oguzhan , Demir Berrin , Çayir Atilla

Background: 46,XX gonadal dysgenesis is a rare condition linked to delayed puberty, absence of spontaneous pubertal development, and primary amenorrhea related to hypergonadotropic hypogonadism (Hh). External genitalia are typically female with no ambiguity. Although ovarian development is an active process with multiple gene involvement, the genetic etiology of this condition is usually unknown. DCAF17 has recently been implicated in the development ...

hrp0092p3-3 | Adrenals and HPA Axis | ESPE2019

A 46, XX Patient with 21-OHD Diagnosed During the Etiologic Workup of Male Infertility

Buğrul Fuat , Yildirak Ekrem , Güran Tülay

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of the steroid biosynthesis. 21-hydroxylase deficiency (21-OHD) represents 90–95% of CAH patients and causes adrenal insufficiency and virilization. Although most patients are diagnosed in childhood, the diagnosis of some classical CAH cases are extremely delayed up to sixth and seventh decades of life. Herein, we report a 46, XX patient with 21-OHD diagnose...

hrp0092p3-301 | Late Breaking Abstracts | ESPE2019

A novel heterozygous mutation in the SLC5A2 gene causing mild failure to thrive and subclinical hypoglycemia in a 2-year old girl

Dermitzaki Eleni , Manolakos Emmanouil , Filiousi Fotini , Kleanthous Kleanthis , Papadimitriou Dimitrios T.

Patients: A 2-year old girl was referred due to glucosuria 1874 mg/dl. Fasting blood sugar was 71 mg/dl and HbA1c 4.8%. Examination of her growth charts revealed mild failure to thrive, since 15 months of age, as far as weight gain and height velocity. We used Flash technology (FreeStyle Libre) to identify hypoglycemic episodes. In 9 days, 8% of the time was < 70 mg/dl, with 11 hypoglycemic events: mean duration 94 min, lowest 52 mg/dl.<p class...

hrp0089fc8.6 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

The Roles of Steroids in Gonadal Development and Maintenance – Insights from a Zebrafish Model of Androgen and Cortisol Deficiency

Oakes James A. , Li Nan , Wistow Belinda , Storbeck Karl-Heinz , Cunliffe Vincent T. , Krone Nils

Increasing evidence suggests that the aetiology of disorders of sex development cannot be solely explained by genetic alterations. It is highly likely that environmental factors hitting susceptible genetic backgrounds are partly causative. Zebrafish sex is highly plastic during development, making this species an ideal model for investigation of endocrine disruption and gonadal development and function. However, the hormonal regulation of these processes in zebrafish is poorly...

hrp0089fc14.4 | Multisystem Endocrine Disorders | ESPE2018

Glucocorticoid Deficiency Causes Differentially Dysregulated Oxidative Stress Depending on the Steroidogenic Defects

Li Nan , Weger Meltem , Griffin Aliesha , Eachus Helen , Cunliffe Vincent T , Krone Nils

Glucocorticoids regulate a wide range of biological processes including metabolism. Patients with adrenal insufficiency show impaired glucocorticoid biosynthesis either caused by adrenal defects (primary adrenal insufficiency) or by defects in the pituitary gland or hypothalamus (secondary or tertiary adrenal insufficiency). The systemic consequences of differentially disrupted steroid hormone biosynthesis remain unclear. Increasing evidence suggested steroid hormone precursor...

hrp0089rfc9.4 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

REplacement of MAle mini-Puberty in Neonates and Children with Micropenis and Cryptorchidism due to Hypogonadotropic Hypogonadism: Results of the ‘REMAP’ Study ISRCTN13007297

Papadimitriou Dimitrios T , Chrysis Dionysios , Nyktari Georgia , Zoupanos George , Liakou Eleni , Papadimitriou Anastasios , Mastorakos George

Background: Hormonal replacement in boys with congenital Hypogonadotrophic Hypogonadism (HH) as well as hormonal repair of bilateral cryptorchidism and micropenis remain a challenge in pediatric endocrinology.Methods: In the «REMAP» study ISRCTN13007297 eight neonates and infants, all with bilateral cryptorchidism in intra-abdominal position and micropenis (≤2 cm), with absence of neonatal male-mini puberty were treated for 3 months with ...