Nina Tyutyusheva

Pisa, 56126, Italy

Last Updated: 09/26/2026

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Found 12 publications

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 30, 2025

Noonan syndrome and autoimmune hepatitis: patient report and literature review.

Noonan syndrome and autoimmune hepatitis: patient report and literature review.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 29, 2025

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Journal: Genes

Published: February 12, 2024

Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.

Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.

Journal: Journal of endocrinological investigation

Published: December 07, 2023

Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review.

Hypoparathyroidism Associated with Benign Thyroid Nodules in DiGeorge-like Syndrome: A Rare Case Report and Literature Review.

Journal: Endocrine, metabolic & immune disorders drug targets

Published: July 28, 2023

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development.

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development.

Journal: Genes

Published: July 27, 2023

Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown.

Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 11, 2021

Complete Androgen Insensitivity Syndrome: From Bench to Bed.

Complete Androgen Insensitivity Syndrome: From Bench to Bed.

Journal: International journal of molecular sciences

Published: December 09, 2020

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype.

Journal: Frontiers in pediatrics

Published: November 08, 2020

Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre.

Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre.

Journal: Journal of endocrinological investigation

Published: March 23, 2020

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes.

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: March 18, 2020

17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.

17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.

Journal: Journal of endocrinological investigation

Published: January 02, 2020

Showing 1-12 of 12

Last Updated: 09/26/2026