PCOS is one of the most prevalent gynecological problems. Five to twenty percent of women of reproductive age suffer from this condition. On the other hand, one child out of every 100 suffers from autistic disorders. Both of these conditions have genetic linkage. Recently researchers have been able to establish a correlation between these two conditions.
What Is PCOS?
PCOS, or polycystic ovarian syndrome, is a condition characterized by the increased level of male hormones in the body. In this condition, multiple fluid-filled sacks in the ovary can be detected.
What Are the Causative Factors?
The cause of this condition is unknown. But several risk factors have been identified which may cause this disorder. These are:
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Familial and Genetic Factors: Familial factor is one of the most distinctive features of PCOS. Different genes associated with steroidogenesis are responsible for this condition. Malfunctioning associated with CYP11a, CYP21, CYP17, and CYP19 genes is related to PCOS.
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Lifestyle Factors: PCOS is very much related to lifestyle. Obesity is one of the key factors which is responsible for PCOS. Obesity is responsible for altering metabolic functions, which causes PCOS. Smoking, drinking, and unhealthy food habit are associated with PCOS.
These two factors are responsible for defects in the hypothalamic-pituitary-ovarian (HPO) axis. Due to the effect of these factors, the level of androgen (male sex hormone) remains high. The high level of androgen causes an elevation in the level of luteinizing hormone (LH) and gonadotropin-releasing hormone (GnRH). The level of follicular-stimulating hormone (FSH) remains unchanged or slightly decreases. This causes alliteration in the ratio between luteinizing hormone (LH) and follicular-stimulating hormone (FSH). As a result, ovulatory events may decrease, and the amount of circulating progesterone may decrease. Also, obesity, insulin resistance, and chronic inflammation are associated with PCOS. These conditions disrupt the functioning of various neurotransmitters and affect the hypothalamic-pituitary-adrenal (HPA) axis.
What Are the Symptoms?
PCOS is associated with an irregular menstrual cycle and anovulation (not the release of eggs). Infertility is the main side effect of this condition. It is also associated with the appearance of hair in various body parts like the face, chest, and hand. The psychological side effect of PCOS includes anxiety, depression, and increased stress. The presence of skin tags or darkening of the skin can also be found in this condition.
What Is Autism?
Autism or autism spectrum disorders are a group of neurodevelopmental disorders. Differences in brain development often cause this developmental disorder. This affects the child's emotional, social, cognitive, and physical development. The severity of the condition varies from person to person, and most of the time, it is also associated with other disorders. These disorders include Asperger's syndrome (a type of developmental disorder), childhood disintegrative disorder (the onset of the developmental disorder is late), and Kanner syndrome (a mental disorder characterized by limited social interaction).
What Are the Causes?
The causative factors for autism are not clearly understood. Several factors have been identified so far which are associated with this disorder. These are:
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Genetic Factors: Genetic factors are the most common thing associated with autism. Genetic mutation of SHANK2, FMR1, and MECP2 genes is associated with these conditions.
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Metabolic Disorders: Associations between autism and autism spectrum disorders and metabolic disorders are very common. Several metabolic disorders, like phenylketonuria (a disorder of amino acid metabolism), Smith-Lemli-Opitz syndrome (cholesterol metabolism disorders), and dihydrofolate reductase deficiency (disorders of cerebral folate), are associated with autism.
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Infectious Conditions: Infection caused by several viruses like polyomaviruses (a mammalian virus), cytomegalovirus, and influenza is associated with this condition. Infectious conditions like subacute sclerosing panencephalitis (brain infection caused by measles), rubella (viral infection characterized by a red rash), and mumps (viral infection of the parotid gland) are associated with autism.
What Are the Clinical Symptoms?
The sign and symptoms of autism usually appear at an of 3 years or more. But in some cases, the symptoms may appear a bit late. Though the symptoms vary a lot and depend upon the extent of the disorder, some common clinical manifestations are:
Social Communication Skills:
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Little or almost no eye contact during communication.
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Do not respond to the name or not respond when the person is called.
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No interaction or play with other children by 36 months of age.
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Delayed Cognitive Development
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Babbling is absent or seldom present.
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Absence or little facial expression.
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Unable to play simple interactive games.
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Does not sing or dance up to the age of 60 months.
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Unresponsive to the external environment.
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Restricted or Repetitive Behaviors
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Repetition of words and phrases over and over.
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Tendency to line up objects and toys in a particular order.
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Presence of obsessive interests.
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Repetition of certain physical movements, sounds, words, and affinity towards moving objects.
Other Clinical Features:
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Unusual sleeping and eating habits.
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Anxiety, stress, and other psychological problems.
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Gastrointestinal issues like constipation.
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Presence of hormonal imbalance like growth hormone deficiency.
What Is the Role of PCOS in Autism?
The role of PCOS in autism is still not clear. But the scientists have identified correlations between PCOS and autism in two ways.
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The presence of PCOS in autistic women is one of the striking features. This is mainly associated with adrenal hyperplasia (hyperactivity of the adrenal gland, which is situated over the kidney). Patients show increased androgen levels and altered estrogenic signaling. Other clinical conditions associated with PCOS, like adiposity, increased BMI, and insulin resistance, can also be observed in these cases. A deficiency of aromatization of testosterone (conversion of testosterone estradiol) leads to delayed puberty and menstrual disorders.
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The familial and parental history of autism is correlated with maternal PCOS. 35 percent of women suffering from PCOS have a history of an autistic first child. It is established that fetal exposure to an elevated level of amniotic fluid hormones like androgens, progesterone, 17a-hydroxy-progesterone, and cortisol is linked with autism. In PCOS women, the level of androgen in the fetus is high, which is responsible for epigenetic (molecular level changes)changes in the fetus. This high level of amniotic androgen is associated with hyperandrogenemia during pregnancy, especially in the 2nd (between third to sixth months of pregnancy) and 3rd (between the sixth month to the end of pregnancy) trimesters. Also, p450 aromatase (the enzyme responsible for the breakdown of male hormones) activity is decreased during this period. Researchers have also pointed out the involvement of the same genes, like CYP19A, in PCOS and autism cases.
Conclusion:
Autism and PCOS are both predominant pathological conditions. High levels of male hormones in PCOS mothers can cause genetic dysfunctions and autistic conditions. On the other hand, PCOS is commonly found in autistic individuals. Both these disorders have familial and genetic correlations. Further study is needed to establish the proper pathophysiology behind these correlations.
