Adrenocorticotropic hormone deficiency

Adrenocorticotropic hormone deficiency
Classification and external resources
ICD-10	E 23.0
ICD-9	253.2
OMIM	201400
DiseasesDB	33423

Adrenocorticotropic hormone deficiency (ACTH deficiency) is a result of a decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland.^[1]

It can be associated with TBX19.^[2]

1 Presentation
2 Diagnosis
3 Treatment
4 See also
5 References

Presentation

Symptoms include weakness, hypoglycemia, weight loss and decreased axillary and pubic hair. It can be either isolated or part of a generalised pituary dysfunction. It can be life-threatening if not recognised.

Diagnosis

It is usually diagnosed on basis of an ACTH or insulin tolerance test in combination with the clinical symptoms.^[3]

Treatment

Treatment is with hydrocortisone supplementation.

References

^ Drouin J, Bilodeau S, Vallette S (September 2007). "Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency". Clin. Genet. 72 (3): 175–82. doi:10.1111/j.1399-0004.2007.00877.x. PMID 17718852. http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2007&volume=72&issue=3&spage=175.
^ Lamolet B, Pulichino AM, Lamonerie T et al. (March 2001). "A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins". Cell 104 (6): 849–59. doi:10.1016/S0092-8674(01)00282-3. PMID 11290323. http://linkinghub.elsevier.com/retrieve/pii/S0092-8674(01)00282-3.
^ Cooper MS, Stewart PM (January 2005). "Diagnosis and treatment of ACTH deficiency". Rev Endocr Metab Disord 6 (1): 47–54. doi:10.1007/s11154-005-5224-0. PMID 15711914.

Endocrine pathology: endocrine diseases (E00–E35, 240–259)

Pancreas/
glucose
metabolism

Hypofunction	Diabetes mellitus types: (type 1, type 2, MODY 1 2 3 4 5 6) · complications (coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy, cardiomyopathy) insulin receptor (Rabson–Mendenhall syndrome) · Insulin resistance

Hyperfunction	Hypoglycemia · beta cell (Hyperinsulinism) · G cell (Zollinger–Ellison syndrome)

Hypothalamic/
pituitary axes

Hypothalamus

gonadotropin (Kallmann syndrome, Adiposogenital dystrophy) · CRH (Tertiary adrenal insufficiency) · vasopressin (Neurogenic diabetes insipidus) · general (Hypothalamic hamartoma)

Pituitary

Hyperpituitarism	anterior (Acromegaly, Hyperprolactinaemia, Pituitary ACTH hypersecretion) · posterior (SIADH) · general (Nelson's syndrome)

Hypopituitarism	anterior (Kallmann syndrome, Growth hormone deficiency, ACTH deficiency/Secondary adrenal insufficiency) · posterior (Neurogenic diabetes insipidus) · general (Empty sella syndrome, Pituitary apoplexy, Sheehan's syndrome, Lymphocytic hypophysitis)

Thyroid

Hypothyroidism	Iodine deficiency · Cretinism (Congenital hypothyroidism) · Myxedema · Euthyroid sick syndrome

Hyperthyroidism	Hyperthyroxinemia (Thyroid hormone resistance, Familial dysalbuminemic hyperthyroxinemia) · Hashitoxicosis · Thyrotoxicosis factitia · Graves' disease

Thyroiditis	Acute infectious · Subacute (De Quervain's, Subacute lymphocytic) · Autoimmune/chronic (Hashimoto's, Postpartum, Riedel's)

Goitre	Endemic goitre · Toxic nodular goitre · Toxic multinodular goiter Thyroid nodule

Parathyroid

Hypoparathyroidism	Pseudohypoparathyroidism

Hyperparathyroidism	Primary · Secondary · Tertiary · Osteitis fibrosa cystica

Adrenal

Hyperfunction	aldosterone: Hyperaldosteronism/Primary aldosteronism (Conn syndrome, Bartter syndrome, Glucocorticoid remediable aldosteronism) · AME · Liddle's syndrome · 17α CAH cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome) sex hormones: 21α CAH · 11β CAH

Hypofunction/ Adrenal insufficiency (Addison's, WF)	aldosterone: Hypoaldosteronism (21α CAH, 11β CAH) cortisol: CAH (Lipoid, 3β, 11β, 17α, 21α) sex hormones: 17α CAH

Gonads

ovarian: Polycystic ovary syndrome · Premature ovarian failure

testicular: enzymatic (5-alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency) · Androgen receptor (Androgen insensitivity syndrome)

general: Hypogonadism (Delayed puberty) · Hypergonadism (Precocious puberty)

Height

Gigantism · Dwarfism/Short stature (Laron syndrome, Psychosocial)

Multiple

Autoimmune polyendocrine syndrome (APS1, APS2) · Carcinoid syndrome · Multiple endocrine neoplasia (1, 2A, 2B) · Progeria (Werner syndrome, Acrogeria, Metageria) · Woodhouse-Sakati syndrome

M: END

anat/phys/devp/horm

noco(d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains	1.2: Feingold syndrome · Saethre-Chotzen syndrome 1.3: Tietz syndrome

(2) Zinc finger DNA-binding domains	2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis 2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome 2.3: Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2 2.5: Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains	3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat-Wilson syndrome) 3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3) 3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX) 3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)

(4) β-Scaffold factors with minor groove contacts	4.2: Hyperimmunoglobulin E syndrome 4.3: Holt-Oram syndrome · Li-Fraumeni syndrome · Ulnar–mammary syndrome 4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome) 4.11: Cleidocranial dysostosis

(0) Other transcription factors	0.6: Kabuki syndrome

Ungrouped	TCF4 (Pitt-Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)

Transcription coregulators	coactivator: CREBBP (Rubinstein–Taybi syndrome) corepressor: HR (Atrichia with papular lesions)

see also transcription factors B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Adrenocorticotropic hormone deficiency

Contents

Presentation

Diagnosis

Treatment

See also

References