Correspondence
Turner's Syndrome
N Engl J Med 1997; 336:1526-1528May 22, 1997
- Article
To the Editor:
Dr. Saenger's excellent review of Turner's syndrome (Dec. 5 issue)1 refers to a webbed-neck deformity and abnormal hairline in some patients with this disorder. This deformity may be one of the biggest obstacles these children face in development, especially if the webbing is severe. Some people may think that the children have Down's syndrome, but as Dr. Saenger states, “Intelligence is generally normal.”
The webbing is a complex process, probably related to congenital lymphedema in this region. There is a dense fibrous band extending from the mastoid process to the acromion. The web is composed of dense fibrous tissue that can limit the range of motion of the head and elevate the shoulders. Where there appears to be an excess of skin horizontally, there is actually a shortage of skin in the vertical dimension. My colleagues and I have used an operation that releases the restrictive band, removes the web and most of the abnormal hairline, and also corrects the vertical deficiency by a large V-Y plasty.
Attempts to correct this deformity have often resulted in severe scarring or in a recurrence of the webbing. Effective correction is crucial for the normal growth and development of children with Turner's syndrome.
1 ReferencesThomas J. Gargan, M.D.
601 East Hampden Ave., Englewood, CO 801101
Saenger P . Turner's syndrome. N Engl J Med 1996;335:1749-1754
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To the Editor:
Mathisen et al. reported oral motor dysfunction and feeding disorders in infants with Turner's syndrome.1 These infants had hypotonia of the cheeks and lips, dysfunctional tongue movements, and poor chewing skills. The mothers who experienced difficulty feeding their infants indicated that early help would have been welcome, but few of them received advice for this problem. The American Academy of Pediatrics recommends that anticipatory guidance be given to parents of infants with Turner's syndrome regarding the possibility of feeding problems due to inefficient sucking and swallowing reflexes.2
We have also seen feeding disorders in a child with Turner's syndrome in whom frequent choking episodes developed at the age of six years. She had had problems with regurgitation as an infant and a pattern of oral aversion, preferring liquids over solids. Despite this, she had been able to eat solid foods for several years before the choking episodes began. A barium swallow revealed cricopharyngeal spasm with distention of the hypopharynx. The patient's choking symptoms improved with a trial of baclofen, although she continues to have occasional difficulty swallowing both pureed and solid foods.
Our observation may be coincidental. However, given the craniofacial abnormalities common in Turner's syndrome, including palatal anomalies and micrognathia, it is not surprising that our patient and those studied by Mathisen et al. manifest dysfunction of additional structures derived from the branchial arches.
2 ReferencesJehanna M. Peerzada, B.A.
Alan A. Rozycki, M.D.
Richard E. Nordgren, M.D.
Dartmouth–Hitchcock Medical Center, Lebanon, NH 037661
Mathisen B ,Reilly S ,Skuse D . Oral-motor dysfunction and feeding disorders of infants with Turner syndrome. Dev Child Neurol 1992;34:141-149
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American Academy of Pediatrics
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To the Editor:
Outcomes such as bone mineral density and psychosocial adaptation may be affected adversely by Dr. Saenger's recommendation to delay puberty (a critical period for the acquisition of peak bone mass1) until after the 14th birthday in patients with Turner's syndrome.
Adult women with this disorder are at high risk for osteoporosis with fractures.2 The one small series of measurements of bone mineral density in young adults with Turner's syndrome showed osteoporosis to be common in patients not given low-dose estrogen until after the age of 13 years; in contrast, the few patients with spontaneous puberty had normal bone mineral densities.3
Dr. Saenger's recommendations are clearly intended to maximize adult height in the context of growth hormone supplementation. However, there is a lack of data supporting reliance on exogenous growth hormone to conserve the normal acquisition of bone mass in young adults. Furthermore, the hypothesis that the failure to achieve gains in adult height with growth hormone supplementation in many patients results from low-dose estrogen therapy before the age of 14 remains unconfirmed. Research to reconcile the variability in adult height after growth hormone supplementation is necessary.4
The recommendation against the use of synthetic ethinyl estradiol, a modification of the principal human estrogen, seems to relate to potency; however, much lower doses of ethinyl estradiol than those used in contraceptives (e.g., 2.5 to 10 μg) are available for pubertal induction and are being studied for their effect on postmenopausal osteoporosis.5 Such low doses may be more physiologic for inducing puberty than those recommended by Dr. Saenger.
5 ReferencesShayne P. Taback, M.D.
Montreal Children's Hospital, Montreal, QC H3H 1P3, CanadaCheri Deal, Ph.D., M.D.
Guy Van Vliet, M.D.
Hôpital Ste.-Justine, Montreal, QC H3T 1C5, Canada1
Theintz G ,Buchs B ,Rizzoli R , et al. Longitudinal monitoring of bone mass accumulation in healthy adolescents: evidence for a marked reduction after 16 years of age at the levels of lumbar spine and femoral neck in female subjects. J Clin Endocrinol Metab 1992;75:1060-1065
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Davies MC ,Gulekli B ,Jacobs HS . Osteoporosis in Turner's syndrome and other forms of primary amenorrhoea. Clin Endocrinol (Oxf) 1995;43:741-746
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Gussinyé M, Enrubia M, Ibáñez L, Audí L, Carrascosa A. Bone mineral density in adult patients with Turner syndrome. Presented at the 10th International Congress of Endocrinology, 1996. abstract.
4
Ranke MB, Albertsson-Wikland K. Summary of session “growth.” In: Albertsson-Wikland K, Ranke MB, eds. Turner syndrome in a life-span perspective. Amsterdam: Elsevier, 1995:201-2.
5
Speroff L ,Rowan J ,Symons J ,Genant H ,Wilborn W . The comparative effect on bone density, endometrium, and lipids of continuous hormones as replacement therapy (CHART study): a randomized controlled trial. JAMA 1996;276:1397-1403
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Author/Editor Response
The author replies:
To the Editor: The webbed neck in Turner's syndrome is probably the most obvious consequence of severe lymphatic obstruction during fetal life. Often the neck is also short. As Dr. Gargan points out, the surgery to correct webbing is difficult, and the outcome often disappointing. Early surgery in young children may have somewhat better cosmetic results.1 Certainly, unnecessary surgery — including ear or body piercing — should be discouraged because of the tendency for keloid development in patients with Turner's syndrome.
Peerzada et al. point out the feeding difficulties that may occur. Micrognathia is well known in Turner's syndrome. As Dutch investigators have shown,2 growth hormone therapy tends to increase the growth of the lower jaw preferentially while having no significant impact on the growth of the upper jaw. In patients with Turner's syndrome who have micrognathia, growth hormone can help the mandible catch up to the maxilla, whereas in girls who do not have micrognathia, increased mandibular growth can lead to an underbite, mainly due to vertical growth of the ramus of the mandible. This is quite different from acromegaly, of course, in which the entire mandible enlarges and protrudes.
I agree with Dr. Taback and colleagues that we really do not know yet how best to introduce estrogen therapy in short patients with Turner's syndrome. Estrogen should probably be introduced only when patients are near their final height. In a study that combined very low doses of estrogen (25 ng per kilogram of body weight per day)3 with growth hormone, there was a slight additive effect on growth velocity but also an accelerated increase in bone-age maturation in girls with bone ages of less than 11 years and chronological ages between 13 and 14 years. Hence, I recommend 14 years as a rational age for starting estrogen supplementation. The low doses Taback et al. recommend have not yet been tested in Turner's syndrome. Despite the variable height outcomes after growth hormone therapy in patients with Turner's syndrome, a Food and Drug Administration (FDA) advisory committee recommended this therapy nearly unanimously at its meeting on December 10, 1996. The FDA has since granted marketing clearance, as have authorities in 27 other countries.
Although the issue of adequate bone mineral density is difficult to assess in Turner's syndrome,4 because of a frequent intrinsic “osteopenic” appearance of the bone, we should take heart from the report by Neely et al., which demonstrates that adolescents with Turner's syndrome who receive growth hormone are not osteopenic and have normal bone mineral density. The report concludes that early estrogen replacement cannot be justified on the basis of bone mineral status.5
As Gargan and Peerzada point out, we need a national data base. The U.S. Turner Syndrome Society (1313 S.E. 5th Street, Minneapolis, MN 55414; fax: [612] 379-3619) is developing one and welcomes data submissions.
5 ReferencesPaul Saenger, M.D.
Albert Einstein College of Medicine, Bronx, NY 104611
Crawford JD. Management of children with Turner's syndrome. In: Papadatos CJ, Bartsocas CS, eds. The management of genetic disorders. New York: Alan R. Liss, 1979:97-109.
2
Rongen-Westerlaken C ,Born E ,Prahl-Andersen B , et al. Effect of growth hormone treatment on craniofacial growth in Turner's syndrome. Acta Paediatr 1993;82:364-368
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Vanderschueren-Lodeweyckx M ,Massa G , et al. Growth-promoting effect of growth hormone and low dose ethinyl estradiol in girls with Turner syndrome. J Clin Endocrinol Metab 1990;70:122-126
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Ross JL ,Long LM ,Feuillan P ,Cassorla F ,Cutler GB Jr . Normal bone density of the wrist and spine and increased wrist fractures in girls with Turner's syndrome. J Clin Endocrinol Metab 1991;73:355-359
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Neely EK ,Marcus R ,Rosenfeld RG ,Bachrach LK . Turner syndrome adolescents receiving growth hormone are not osteopenic. J Clin Endocrinol Metab 1993;76:861-866
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