hrp0097rfc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Serum steroid metabolome dynamics during infancy: a prospective, longitudinal cohort of healthy boys

Siegfried Busch Alexander , Lindhardt Ljubicic Mariee , N. Upners Emmie , B. Fischer Margit , P. Hagen Casper , Frederiksen Hanne , Juul Anders

Background: The circulating steroid metabolome in boys undergoes significant changes during infancy reflecting functional and structural rearrangements of the adrenal glands as well as the transient activity of the hypothalamic–pituitary–gonadal axis, also called minipuberty. Studies investigating the serum steroid metabolome dynamics during infancy in a longitudinal manner are however sparse.Objective: We ai...

hrp0097rfc11.2 | GH and IGFs | ESPE2023

Are pappalysins and stanniocalcins involved in modifying the bioavailability of IGF-I in children with onset of type 1 diabetes mellitus?

Güemes Maria , Canelles Sandra , Martín-Rivada Álvaro , Corredor Beatriz , Barrios Vicente , Argente Jesús

Introduction: Both poor and optimal metabolic control of type 1 diabetes mellitus (T1DM) in children can impact longitudinal growth. A decrease in insulin-like growth factor (IGF)-I and its binding protein 3 (IGFBP3) has been described in these patients. New growth regulatory factors [pappalysins (PAPP-As) and stanniocalcins (STCs)] could modulate the bioavailability of IGFs by regulating the concentrations of intact and free IGFBPs.<str...

hrp0097p1-419 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Evaluation of the pediatric patients diagnosed with secondary osteoporosis

Singin Berna , Donbaloğlu Zeynep , Barsal Çetiner Ebru , Aydın Behram Bilge , Ünver Tuhan Hale , Parlak Mesut

Objective: Secondary osteoporosis has a high rate of accompanying chronic diseases. We aimed to review the clinical and laboratory features, underlying causes, Dual Energy X-ray Absorptiometry (DEXA) results before and after treatment of patients diagnosed with secondary osteoporosis and to determine the relationship between this condition and fracture rates.Methods: This study was designed as a single-center, descriptiv...

hrp0098p2-291 | Thyroid | ESPE2024

A case of papillary thyroid cancer in a boy with an aggravated heredity for medullary thyroid cancer

B Bricheva Ella , V Nagaeva Elena , M Abdulkhabirova Fatima , M Lapshina Anastasiya , A Mikheenkov Alexander , N Brovin Dmitry , V Bondarenko Ekaterina

Background: Thyroid cancer (TC) caused by germline mutations most often manifests in childhood. Hereditary forms of TC are divided into two groups: non-medullary and medullary thyroid cancer (MTC). A mutation in RET gene can be detected in about 95% of patients with MTC. If a mutation in RET gene is found, prophylactic thyroidectomy is recommended.Aim: To demonstrate the importance of molecular genetic ...

hrp0098p2-312 | Late Breaking | ESPE2024

Infantile Hypercalcemia Type 2 due to a novel compound heterozygous association in the SLC34A1 gene in a neonate with hypercalcemia and nephrocalcinosis

T Papadimitriou Dimitrios , Fourikou Maria , Ververi Athina , Kaffe Katerina , Mantsiou Chrysanthi , Goudesidou Maria , N Grivea Ioanna , D Kollios Konstantinos

SLC34A1 gene encodes for the sodium-phosphate cotransporter 2A (NPT2a), highly expressed in the proximal renal tubule. Three different human phenotypes have been linked with NaPi-IIa variation: Hypophosphatemic Nephrolithiasis with Osteoporosis, Renotubular Fanconi Syndrome Type 2 and Infantile Hypercalcemia 2 (HCINF2). Dysfunctional NPT2a can lead to renal phosphate loss, hypophosphatemia, increased CYP27B, decreased CYP24A1 expression with increased 1,25(OH)2D and suppressed...

hrp0095p2-188 | Growth and Syndromes | ESPE2022

Kearns-Sayre syndrome – a rare cause of growth hormone deficiency

Braovac Duje , Vinkovic Maja , Krnic Nevena , Lehman Ivan , Jovanovic Ivan , Matkovic Hana , Dumic Kubat Katja

Background: Kearns – Sayre syndrome (KSS) is a rare mitochondropathy. Among chronic progressive external opthalmoplegia, pigmentary retinal degeneration and ataxia that are present in most patients before age of 20 years, a significant proportion of patients also have various endocrine deficiencies.Case report: We report on a previously healthy boy who presented at the age of 8 years to the endocrine clinic due to ...

hrp0086fc12.5 | Neuroendocrinology | ESPE2016

Abnormal Corticospinal Tract Decussation in Kallmann Syndrome due to ANOS1 (KAL1) Mutations: An Explanation of the Mirror Movements Frequently Observed in These Patients

Gonzalez-Briceno Laura , Sonnet Emmanuel , Guimiot Fabien , Laquerriere Annie , Kerlan Veronique , Salem Douraied Ben , Gunczler Peter , de Roux Nicolas

Background: Mirror movements (MM) are frequently associated to Kallmann syndrome (KS). They are mainly observed in patients with ANOS1 (KAL1) mutations. MM have never been reported in ANOS1 mutated females. A defect in the contralateral inhibition of the pyramidal tract has been proposed as the mechanism of MM in KS but never demonstrated.Objective and hypotheses: To investigate the molecular mechanism of a familial case of gonadotropic deficiency in whi...

hrp0094p2-28 | Adrenals and HPA Axis | ESPE2021

An Adolescent Case With Adrenoleukodystrophy Diagnosed After Detection Of Leydig Cell Dysfunction

Okur Iclal , Cetinkaya Semra , Elmaogullari Selin , Kilic Mustafa , Yuksel Deniz , Emine Derinkuyu Betul , Karacan-Kucukali Gulin , Sakar Merve , Guleray-Lafci Naz , Savas-Erdeve Senay ,

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

hrp0098rfc8.2 | Adrenals and HPA Axis 2 | ESPE2024

A Novel Peroxisomal Cause of Primary Adrenal İnsufficiency: Pseudo-neonatal Adrenoleukodystrophy Due to ACOX1 Mutations.

Helvacioglu Didem , Tugba Canbaz Aylin , Tekmenuray-Unal Aysel , Yapici Özge , Genç Emine , Gurpinar Tosun Busra , Ozturk Hismi Burcu , Guran Tulay

Background: Human peroxisomal fatty acyl CoA oxidase 1, encoded by the ACOX1 gene, catalyzes the first and rate limiting step in the beta oxidation of straight chain fatty acids in the peroxisomes. Biallelic mutations in ACOX1 are associated with pseudo-neonatal adrenoleukodystrophy characterized by severe hypotonia, seizures, psychomotor retardation followed by neuroregression, and death in early childhood. To date, primary adrenal insuffici...

hrp0095rfc6.2 | Sex Development and Gonads | ESPE2022

Dynamic changes of reproductive hormones in male minipuberty: Temporal dissociation of Leydig- and Sertoli-cell activity

S. Busch Alexander , Lindhardt Ljubicic Marie , N Upners Emmie , Bistrup Fischer Margit , Lau Raket Lars , Frederiksen Hanne , Albrethsen Jakob , Holm Johannsen Trine , P Hagen Casper , Juul Anders

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...