Primary adrenal insufficiency

master's thesis

• Title (croatian): Primarna adrenalna insuficijencija
• Author: Shir Phillip
• Mentor: Katja Dumić Kubat (mentor)
• Committee member: Katja Dumić Kubat (predsjednik povjerenstva)
• Committee member: Nevena Krnić (član povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2021-10-11, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Primary adrenal insufficiency is a rare condition caused by pathology of the
adrenal gland itself, often due to autoimmune adrenalitis or inborn error of
steroidogenesis.
The adrenal cortex contains three zones, and each zone produces a different
hormone - the zona glomerulosa (aldosterone), the zona fasciculata (cortisol),
and the zona reticularis (sex steroids). The renin-angiotensin system regulates
the production and synthesis of aldosterone, while cortisol is regulated by the
hypothalamic-pituitary-adrenal axis.
Clinical symptoms depend on whether patient has glucocorticoid and/or
mineralocorticoid deficiency, or sometimes androgen deficiency or excess. In
patients with glucocorticoid deficiency weakness, weight loss, and anorexia are
typically found, while patients with mineralocorticoid deficiency present with
hyponatremia, hyperkalemia, acidosis, tachycardia, hypotension, and salt
craving.
More than 30 different monogenic disorders can cause primary adrenal
insufficiency with varying patterns of inheritance. The most common is congenital
adrenal hyperplasia due to 21-hydroxylase deficiency.
The signs and symptoms of primary adrenal insufficiency might not be specific.
Thus, clinicians have a considerable challenge in diagnosing the disease and
should have a high index of suspicion. An electrolyte disbalance can provide a
clue for diagnosis, but ACTH stimulating test is the most used diagnostic test for
adrenal gland dysfunction.
As a result of a deficiency in glucocorticoids and mineralocorticoids, the patients
require long-term replacement therapy and salt intake as needed. Patients with
primary adrenal insufficiency also have androgen deficiency, but the benefits of
androgen replacement are less clearly defined, and guidelines do not
recommend androgen replacement.

Abstract (croatian)

Primarna adrenalna insuficijencija je rijetka. Uzrokovana je oštećenjem ili
poremećajem funkcije nadbubrežne žlijezde, najčešće u sklopu autoimunog
adrenalitisa ili poremećaja steroidogeneze.
Kora nadbubrežne žlijezde se sastoji od tri zone od kojih je svaka odgovorna za
sintezu različitih hormona, zona glomerulosa (aldosteron), zona fasciculata
(kortizol) i zona reticularis (spolni hormoni). Sustav renin-angiotenzin regulira
proizvodnju i sintezu aldosterona, dok sintezu kortizola regulira osovina
hipotalamus-hipofiza-nadbubrežna žlijezda.
Klinička slika može biti rezultat manjka glukokortikoida i/ili mineralokortikoida, a
ponekad i hipo- ili hipersekrecije adrenalnih androgena. Kod manjka
glukokortikoida tipično se javljaju slabost, gubitak težine i anoreksija, dok se
manjak mineralokortikoida očituje hiponatremijom, hiperkalijemijom, acidozom,
tahikardijom, hipotenzijom i žudnjom za soli.
Više od 30 različitih monogenih poremećaja koji se i različito nasljeđuju mogu
uzrokovati primarnu adrenalnu insuficijenciju. Najčešća je kongenitalna
adrenalna hiperplazija zbog manjka enzima 21-hidroksilaze.
Znakovi i simptomi primarne adrenalne insuficijencije često nisu specifični te
zbog čega dijagnoza često predstavlja izazov. Elektrolitski disbalans može
pobuditi sumnju na primarnu adrenalnu insuficijenciju. Stimulacijski test ACTHom
je najčešće korišten test u dijagnostici primarne adrenalne insuficijencije.
Zbog manjka glukokortikoida i/ili mineralokortikoida, bolesnicima je potrebna
dugotrajna nadomjesna terapija i po potrebi dodatan unos soli. Bolesnici s
primarnom adrenalnom insuficijencijom također mogu imati i manjak androgena,
no kako prednosti nadomjesne terapije androgenima nisu jasno definirane,
smjernice ne preporučuju supstituciju.

• Keywords: Mineralocorticoids; Hydrocortisone; Glucocorticoids; Aldosterone; Hyponatremia; Anorexia; Androgens; Pituitary-Adrenal System; Hypotension; Tachycardia
• Keywords (croatian): Mineralokortikoidi; Hidrokortizon; Glukokortikoidi; Aldosteron; Hiponatrijemija; Anoreksija; Androgeni; Hipofizno-nadbubrežni sustav; Hipotenzija; Tahikardija
• Language: english
• URN:NBN: urn:nbn:hr:105:444496
• Study programme: Title: Medicine (in English language); Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-12-22 09:56:51