X-linked adrenal hypoplasia congenita
Last updated 26 Jul 2023
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X-linked adrenal hypoplasia congenita is a disorder that is noticeable from birth (congenital) and affects the development of the adrenal glands, which are hormone-producing (endocrine) organs (glands) located on top of each kidney. These glands produce a variety of hormones that regulate many essential functions in the body, such as response to stress.
Description
X-linked adrenal hypoplasia congenita is a disorder that is noticeable from birth (congenital) and affects the development of the adrenal glands, which are hormone-producing (endocrine) organs (glands) located on top of each kidney. These glands produce a variety of hormones that regulate many essential functions in the body, such as response to stress.
One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood glucose (hypoglycemia), and shock. If untreated, these complications are often life-threatening.
Individuals with X-linked adrenal hypoplasia congenita may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism.
The onset and severity of these signs and symptoms can vary, even among affected members of the same family.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
Adrenal hypoplasia congenita
X-linked AHC
Related patient information and medicines
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Addison's disease
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Further reading and references
- X-linked adrenal hypoplasia congenita; MedlinePlus, National Library of Medicine.
- Achermann JC, Vilain EJ. NR0B1-Related Adrenal Hypoplasia Congenita. 2001 Nov 20 [updated 2018 Jan 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1431/
- Ahmad I, Paterson WF, Lin L, Adlard P, Duncan P, Tolmie J, Achermann JC, Donaldson MD. A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. Horm Res. 2007;68(1):32-7. doi: 10.1159/000099835. Epub 2007 Feb 16.
- Choi HS, Kwon A, Chae HW, Suh J, Song KC, Lee JS, Kim HS. Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita. Ann Pediatr Endocrinol Metab. 2021 Jun;26(2):126-129. doi: 10.6065/apem.2040088.044. Epub 2021 Jun 30.
- Clipsham R, McCabe ER. DAX1 and its network partners: exploring complexity in development. Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. doi: 10.1016/j.ymgme.2003.08.023.
- Fujieda K, Okuhara K, Abe S, Tajima T, Mukai T, Nakae J. Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita. J Steroid Biochem Mol Biol. 2003 Jun;85(2-5):483-9. doi: 10.1016/s0960-0760(03)00232-2.
- Fujieda K, Tajima T. Molecular basis of adrenal insufficiency. Pediatr Res. 2005 May;57(5 Pt 2):62R-69R. doi: 10.1203/01.PDR.0000159568.31749.4D. Epub 2005 Apr 6.
- Hammer GD, Parker KL, Schimmer BP. Minireview: transcriptional regulation of adrenocortical development. Endocrinology. 2005 Mar;146(3):1018-24. doi: 10.1210/en.2004-1385. Epub 2004 Dec 16.
- Lalli E, Sassone-Corsi P. DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol. 2003 Aug;17(8):1445-53. doi: 10.1210/me.2003-0159. Epub 2003 May 29.
- Ludbrook LM, Harley VR. Sex determination: a 'window' of DAX1 activity. Trends Endocrinol Metab. 2004 Apr;15(3):116-21. doi: 10.1016/j.tem.2004.02.002.
- Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P. DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients. Eur J Endocrinol. 2006 May;154(5):685-9. doi: 10.1530/eje.1.02132.
- Sehgal A, Stack J. Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita. Indian J Pediatr. 2005 Jan;72(1):67-9. doi: 10.1007/BF02760584.
- Tabarin A. Congenital adrenal hypoplasia and DAX-1 gene mutations. Ann Endocrinol (Paris). 2001 Apr;62(2):202-6.
- Wikiera B, Jakubiak A, Laczmanska I, Noczynska A, Smigiel R. Complex glycerol kinase deficiency - long-term follow-up of two patients. Pediatr Endocrinol Diabetes Metab. 2021;27(3):227-231. doi: 10.5114/pedm.2021.109681.
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