Magdalena Stefanija-Avbelj

Ljubljana, Slovenia

Last Updated: 09/26/2026

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Found 25 publications

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.

Journal: Frontiers in endocrinology

Published: June 26, 2023

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Journal: Frontiers in endocrinology

Published: December 29, 2022

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.

Journal: Endocrine connections

Published: October 06, 2022

Final adult height in children with central precocious puberty - a retrospective study.

Final adult height in children with central precocious puberty - a retrospective study.

Journal: Frontiers in endocrinology

Published: July 31, 2022

GNRHR-related central hypogonadism with spontaneous recovery - case report.

GNRHR-related central hypogonadism with spontaneous recovery - case report.

Journal: Italian journal of pediatrics

Published: May 23, 2022

An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.

An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.

Journal: Genes

Published: March 31, 2022

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

Journal: Genes

Published: March 31, 2022

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.

A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.

Journal: Genes

Published: February 20, 2022

Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene.

Familial Non-autoimmune Hyperthyroidism in Family Members Across Four Generations Due To a Novel Disease-causing Variant in The Thyrotropin Receptor Gene.

Journal: Balkan journal of medical genetics : BJMG

Published: April 05, 2021

Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.

Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.

Journal: Frontiers in endocrinology

Published: March 31, 2021

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.

Journal: Medicina (Kaunas, Lithuania)

Published: December 30, 2020

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.

Journal: Medicina (Kaunas, Lithuania)

Published: November 06, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026