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Turner Syndrome With Associated Behavior Disorder

Discussion. Turner syndrome (after Henry H. Turner, who in 1938 first described the condition1), is a female-specific disorder affecting approximately 1 in 2,500 individuals2 in which part or all of a normal second sex chromosome is missing, leading to various structural abnormalities.3,4 In terms of distribution, approximately 50% of persons with Turner syndrome have monosomy X (45,X), some have duplication of the long arm of one X chromosome (46,X,i[Xq]), and 30% to 40% display mosaicism (45,X/46,XX) with a normal cell line.4-6

Approximately 2% to 11% of persons with Turner syndrome have a ring X chromosome and a mosaic 45,X/46,X,rX karyotype. These individuals generally have relatively milder symptoms compared with individuals with a nonmosaic 45,X karyotype; however, they have an increased risk (especially in the presence of a ring) of mental retardation.4,7,8 Turner syndrome is also known to be associated with a higher risk of autism,9 and co-occurrence of macrocephaly also has been reported.10

Most observed clinical features in women with Turner syndrome include webbed neck, short stature, cardiac and renal malformations, osteoporosis, hearing problems, hypertension, hypothyroidism and gonadal dysgenesis. Affected individuals may present with varying degrees of clinical symptom at various stages of life.11 Approximately 70% of patients with Turner syndrome are reported to have learning disabilities, approximately 10% will have significant developmental delays, and approximately 2% to 10% will have coexisting psychiatric diagnoses.4,12-14 Our patient’s sexual immaturity and short stature are compelling reasons for her to feel anxious, sad, and isolated from peers.

Often parents of children with Turner syndrome need counseling and support due to the feeling of guilt and risk of poorer adjustment.15,16 In our patient’s case, the presence of both macrocephaly and autism is very unusual in classic Turner syndrome, and the mother’s reactions might be expected to exceed the usual parental concerns over mild learning differences and short stature. Our patient’s mother, the sole caregiver and a single mother, completed a Caregiver Burden Scale, a 22-item questionnaire. Her score was 21, indicating that she experiences a mild to moderate burden. Of note in her responses, she reported that she “nearly always” feels stressed between caring for her daughter and trying to meet other responsibilities for her family or work, is afraid about what the future holds for her daughter, and feels that she has lost control of her life since her daughter’s illness.

References:

1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938;23:566-574.