0
Get Alert
Please Wait... Processing your request... Please Wait.
You must sign in to sign-up for alerts.

Please confirm that your email address is correct, so you can successfully receive this alert.

1
Letter   |    
Co-occurrence of X-Linked Congenital Adrenal Hypoplasia and Autistic Disorder
Karl G. Sieg
The Journal of Neuropsychiatry and Clinical Neurosciences 2009;21:227-228.

To the Editor: One form of congenital adrenal hypoplasia is associated with the Xp21 chromosomal region. These patients have clinical abnormalities including mental retardation, hearing loss, hypogonadism, glycerol kinase deficiency, ornithine transcarbamoylase deficiency, and Duchenne muscular dystrophy. This letter presents a case of a patient with X-linked congenital adrenal hypoplasia whose mental status as a preadolescent male was also consistent with the diagnosis of autistic disorder.

+

Case Report

A 12-year-old Caucasian boy presented with features of autistic disorder including marked lack of awareness of the feelings of others; no seeking of comfort in times of distress; gross impairment in ability to make peer friendships; abnormal nonverbal communication; abnormalities in speech production including perseveration and echolalia; stereotyped body movements including flapping, clapping, and rocking; and persistent preoccupation with parts of objects reflecting a restricted range of interests. His Autism Behavior Checklist total score was 126 with the following subscale profile results: sensory 15, relating 33, body and object use 31, language 25, social and self-help 22. Speech and language testing indicated an age equivalency of 2.8 to 3.0 years old with severe delays of receptive and expressive language as well as speech articulation. MRI brain scan was unremarkable. Chromosomal analysis had confirmed a deletion at the Xp21 region. His family pedigree noted several female congenital adrenal hypoplasia carriers including his mother as well as male infants who had died from congenital adrenal hypoplasia with no family history of autism, nor other developmental, neurologic, or psychiatric conditions. The patient had been prenatally diagnosed with congenital adrenal hypoplasia and survived with in utero replacement therapy initiated at 40 weeks gestation with 100 mg of dehydroepiandrosterone sulfate infused into the amniotic space. Subsequent assessments revealed normalizing maternal estriol excretion. After birth at 43.5 weeks gestation, mineralocorticoid replacement therapy was administered during infancy. Later evaluations revealed steroid deficiencies as well as chronic failure to thrive. Progressive motor, language, and socialization delays followed as described.

+

Comment

Despite receiving replacement treatment, it is conceivable that congenital adrenal hypoplasia-related neurophysiologic abnormalities may have already been staged. Adrenal hormone imbalances have been linked to disturbances of development, language, memory, and mood.1 Congenital adrenal hypoplasia can impact the function of the mineralocorticoid and glucocorticoid receptor systems for cortisol binding in the limbic system. The mineralocorticoid receptors, located in the lateral septum and hippocampus, affect tonic influences on brain function.2 They demonstrate a 10-fold higher binding affinity for cortisol over glucocorticoid receptors.1 Glucocorticoid receptors are more widely distributed in the lateral septum, central amygdala, locus coeruleus, and dentate nucleus having involvement with feedback action on stress-activated brain mechanisms.2 Other studies demonstrated the selective loss of hippocampal granule cells after adrenalectomy suggesting adrenal hormones are a requirement for limbic structural integrity.3 Adrenal deficiency causes hippocampal serotonin receptor density to selectively increase along with development of subsensitivity at presynaptic receptors.4 Such impacts on serotonin receptors are particularly significant as alterations of serotonergic neurotransmission have been implicated in both autistic disorder and mental retardation.5

.
Dubrovsky B: Effects of adrenal cortex hormones on limbic structures: some experimental and clinical correlations related to depression. J Psychiatr Neurosci 1993; 18:4—16
 
.
Reul JM, de Kloet ER: Two receptor systems for corticosterone in rat brain: microdistribution and differential occupation. Endocrinology 1985; 117:2505—2511
 
.
Sloviter RS, Valiquette G, Abrams GM, et al: Selective loss of hippocampal granule cells in the mature rat brain after adrenalectomy. Science 1989; 243:535—538
 
.
Martire M, Navarra P, Pistritto G, et al: Adrenal steroid-induced changes in serotonin receptors in rat hippocampus and hypothalamus. Pharm Res Comm 1988; 20:415—416
 
.
Cook EH, Leventhal BL, Heller W, et al: Autistic children and their first-degree relatives: relationships between serotonin and norepinephrine levels and intelligence. J Neuropsychiatry Clin Neurosci 1990; 2:268—274
 
+

References

.
Dubrovsky B: Effects of adrenal cortex hormones on limbic structures: some experimental and clinical correlations related to depression. J Psychiatr Neurosci 1993; 18:4—16
 
.
Reul JM, de Kloet ER: Two receptor systems for corticosterone in rat brain: microdistribution and differential occupation. Endocrinology 1985; 117:2505—2511
 
.
Sloviter RS, Valiquette G, Abrams GM, et al: Selective loss of hippocampal granule cells in the mature rat brain after adrenalectomy. Science 1989; 243:535—538
 
.
Martire M, Navarra P, Pistritto G, et al: Adrenal steroid-induced changes in serotonin receptors in rat hippocampus and hypothalamus. Pharm Res Comm 1988; 20:415—416
 
.
Cook EH, Leventhal BL, Heller W, et al: Autistic children and their first-degree relatives: relationships between serotonin and norepinephrine levels and intelligence. J Neuropsychiatry Clin Neurosci 1990; 2:268—274
 
+
+

CME Activity

There is currently no quiz available for this resource. Please click here to go to the CME page to find another.
Submit a Comments
Please read the other comments before you post yours. Contributors must reveal any conflict of interest.
Comments are moderated and will appear on the site at the discertion of APA editorial staff.

* = Required Field
(if multiple authors, separate names by comma)
Example: John Doe



Related Content
Books
The American Psychiatric Publishing Textbook of Psychopharmacology, 4th Edition > Chapter 1.  >
The American Psychiatric Publishing Textbook of Psychopharmacology, 4th Edition > Chapter 47.  >
The American Psychiatric Publishing Textbook of Psychopharmacology, 4th Edition > Chapter 26.  >
The American Psychiatric Publishing Textbook of Psychopharmacology, 4th Edition > Chapter 45.  >
The American Psychiatric Publishing Textbook of Geriatric Psychiatry, 4th Edition > Chapter 4.  >
Topic Collections
Psychiatric News
APA Guidelines