Claire R. Hughes

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study.

Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study.

Journal: Human reproduction open

Published: January 09, 2025

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.

Journal: Frontiers in endocrinology

Published: May 22, 2023

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).

Journal: Journal of the Endocrine Society

Published: September 06, 2022

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Journal: Journal of the Endocrine Society

Published: March 19, 2021

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Journal: Journal of the Endocrine Society

Published: May 04, 2018

The effects of improving sleep on mental health (OASIS): a randomised controlled trial with mediation analysis.

The effects of improving sleep on mental health (OASIS): a randomised controlled trial with mediation analysis.

Journal: The lancet. Psychiatry

Published: February 15, 2017

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

Journal: The Journal of clinical endocrinology and metabolism

Published: March 08, 2014

Adrenocortical development, maintenance, and disease.

Adrenocortical development, maintenance, and disease.

Journal: Current topics in developmental biology

Published: December 03, 2013

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.

Journal: European journal of pediatrics

Published: April 04, 2013

ACTH resistance: genes and mechanisms.

ACTH resistance: genes and mechanisms.

Journal: Endocrine development

Published: February 09, 2013

Familial glucocorticoid deficiency: New genes and mechanisms.

Familial glucocorticoid deficiency: New genes and mechanisms.

Journal: Molecular and cellular endocrinology

Published: October 05, 2012

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

Journal: The Journal of clinical endocrinology and metabolism

Published: February 17, 2012

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Last Updated: 09/26/2026