Mitochondrial disease and endocrine dysfunction

J Chow, J Rahman, JC Achermann… - Nature Reviews …, 2017 - nature.com
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis
occurs in these organelles and they provide energy in the form of ATP for hormone …

Addison's disease 2001

S Ten, M New, N Maclaren - The Journal of Clinical …, 2001 - academic.oup.com
Whereas it is now more than 150 yr since T. Addison first described the clinical and
pathological features of adrenal failure, the disease remains underdiagnosed, leading to …

Pediatric adrenal insufficiency: challenges and solutions

D Nisticò, B Bossini, S Benvenuto… - … and clinical risk …, 2022 - Taylor & Francis
Adrenal insufficiency is an insidious diagnosis that can be initially misdiagnosed as other life-
threatening endocrine conditions, as well as sepsis, metabolic disorders, or cardiovascular …

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

D Yubero, R Montero, MA Martín, J Montoya, A Ribes… - Mitochondrion, 2016 - Elsevier
We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with
mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n= 72) …

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study

B Siri, A D'Alessandro, A Maiorana… - European Journal of …, 2023 - academic.oup.com
Abstract Objective Single Large Scale Mitochondrial DNA Deletions (SLSMDs), Pearson
Syndrome (PS) and Kearns-Sayre Syndrome (KSS), are systemic diseases with multiple …

Electrolyte disorders in mitochondrial cytopathies: a systematic review

DHHM Viering, L Vermeltfoort… - Journal of the …, 2023 - journals.lww.com
Background Electrolyte reabsorption in the kidney has a high energy demand. Proximal and
distal tubular epithelial cells have a high mitochondrial density for energy release. Recently …

Adrenal dysfunction in mitochondrial diseases

M Corkery-Hayward, LA Metherell - International Journal of Molecular …, 2023 - mdpi.com
Cortisol is central to several homeostatic mechanisms including the stress and immune
response. Adrenal insufficiency and impaired cortisol production leads to severe, potentially …

The role of suboptimal mitochondrial function in vulnerability to post-traumatic stress disorder

G Preston, F Kirdar, T Kozicz - Journal of inherited metabolic disease, 2018 - Springer
Post-traumatic stress disorder remains the most significant psychiatric condition associated
with exposure to a traumatic event, though rates of traumatic event exposure far outstrip …

Neuromuscular manifestations of endocrine disorders

A Alshekhlee, HJ Kaminski, RL Ruff - Neurologic clinics, 2002 - neurologic.theclinics.com
Chronic glucocorticoid excess directly causes muscle weakness. Muscle wasting in
Cushing's disease reverses if the glucocorticoid levels are normalized. 105 Patients …

The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy.

JA Maceluch, M Niedziela - Pediatric endocrinology reviews: PER, 2006 - europepmc.org
From the first description by Kearns and Sayre in 1958, this syndrome has been diagnosed
in several hundred patients. However, the labile character of its clinical manifestations …