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1166 PEDIATRICS Vol. 96 No. 6 December 1995

AMERICAN ACADEMY OF PEDIATRICS

Health Supervision for Children With Turner Syndrome

Committee on Genetics

This set of guidelines is designed to assist thepediatrician in caring for the child in whom thediagnosis of Turner syndrome has been confirmedby karyotype. Although the pediatrician’s first con-tact with the child is usually during infancy, occa-sionally the pregnant woman who has been giventhe prenatal diagnosis of Turner syndrome wifi bereferred for advice. Therefore, these guidelines offeradvice for this situation as well.

Turner syndrome, as used here, refers to a condi-tion in which there is short stature and ovarian dys-genesis in females because of the absence of a normalsecond sex chromosome. Nonchrornosomal gonadaldysgenesis is excluded. The birth prevalence ofTurner syndrome has been estimated to be fromI :2000 to I :5000 female live births. About I % to 2% ofall conceptuses have a 45,X chromosome constitu-tion. Of these, the majority (99%) spontaneouslyabort, usually during the first trimester of pregnancy.With the more frequent use of ultrasound, it is rec-ognized that some pregnancies with a fetal 45,X chro-mosorne constitution progressing into the second hi-mester are associated with nuchal cysts, severelymphedema, or hydrops fetalis. These pregnanciesare associated with a high frequency of fetal death.

PHENOTYPE

Pediatricians are most familiar with the clinicalfindings that prompt the diagnosis in children,namely, short stature and the classic Turner syn-drome features such as lymphederna, webbed neck,low posterior hair line, and cubitus valgus. A widerange of clinical abnormalities may be found (Table1). Turner syndrome, however, is not always accom-panied by distinctive features and most often is notdiagnosed in infancy. Later in childhood, Turnersyndrome may be suspected primarily because ofshort stature. Other prominent presenting features inteenage years are delayed puberty and delayed men-arche, and in adult women, anovulation and infertil-

The recommendations in this statement do not indicate an exclusive course

of treatment for children with Turner syndrome but are meant to supple-ment anticipatory guidelines available for treating the healthy child pro-vided in the American Academy of Pediatrics publication, Guidelines for

Health Supervision. They are intended to assist the pediatrician in helping

children with Turner syndrome to participate fully in life. Diagnosis and

treatment of genetic disorders are constantly changing. Therefore, pediatri-

cians are encouraged to view these guidelines in light of evolving scientificinformation. Clinical geneticists and other specialists may be valuable re-

sources for the pediatrician seeking additional information or consultation.

PEDIATRICS (ISBN 0031 4005). Copyright © 1995 by the American Acad-

emy of Pediatrics.

ity. A girl with 45,X Turner syndrome may manifestan X-linked recessive disorder because she has onlyone X chromosome. When a girl has an X-linkedrecessive disorder, therefore, the possibility ofTurner syndrome caused by 45,X or a structural ab-normality of an X chromosome should be consid-ered.

Growth in children with Turner syndrome is char-acterized by a slight intrauterine growth retardation,relatively normal growth velocity for the first severalyears of life, a progressive deceleration of growthlater in childhood, and the lack of a pubertal growthspurt. Because of delayed epiphyseal closure, rela-tively small gains in height may occur even after 20years, although normal height is rarely achieved,except with mosaicism (the presence in an individualof two or more chrornosomally different cell lines,both originating from the same zygote). The antici-pated adult height is about 143 cm and rarely ex-ceeds 150 cm.”2

Contrary to earlier reports, most persons withTurner syndrome are not mentally retarded, al-though they may have learning disabifities, particu-larly with regard to spatial perception, visual-motorcoordination, and mathematics.3-5 As a result, thenonverbal IQ in Turner syndrome tends to be lowerthan the verbal IQ.

Cytogenetics

Turner syndrome most likely results from haplo-

insufficiency (the presence in the cell of one set ofgenes rather than the usual two sets) for specificgenes located on the X chromosome.6’7 In healthy46,XX female embryos, inactivation of one X, referredto as lyonization, occurs in every somatic cell shortlyafter fertilization. The genes involved in Turner syn-drome, however, seem to escape inactivation selec-tively. Thus, the healthy 46,XX female embryo has afunctional diploid set of the genes in question. Thesegenes also seem to have homologs on the Y chromo-some, which accounts for the normal growth anddevelopment in XY male embryos.7

The exact location of the genes on the X chrorno-some involved in Turner syndrome has not beendetermined. At present, evidence exists that there isa locus for stature on the distal portion of the shortarm; there are lou for normal ovarian function onboth the short and long arms; and there are locicontributing to fetal viability on the long arm of X.8

In about 80% of girls with 45,X, the single remain-ing X chromosome is inherited from the mother, andin the remaining 20% it is from the father.9 Imprint-

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TABLE 1. Clinical Abnormalities in Turner Syndrome*

AMERICAN ACADEMY OF PEDIATRICS 1167

Short stature

Conadal dysgenesis with hypoplasia or aplasia of germ cellsEdema of hands and feetBroad chest with inverted or hypoplastic nipplesUnusual shape and rotation of earsNarrow maxilla including palateMicrognathiaInner canthal foldsLow posterior hairline with appearance of short neckWebbed neckCubitus valgus or other elbow anomalyKnee anomaly, eg, tibial exostosis

Short metacarpals or metatarsals, usually 4th

Nail dysplasia (eg, narrow, hyperconvex, deeply set, with soft, upturned tips)

Pigmented nevi

Abnormal dermatoglyphics

Cardiac anomaliesMostly bicuspid aortic valve, coarctation of aorta, aortic valve stenosis, also

hypoplastic left heart, mitral valve prolapse, dissecting aortic aneurysm (rare)

Renal anomaliesMostly horseshoe kidney, duplicated renal pelvis, ectopic or mairotated

kidney, or vascular anomalies

Central nervous systemHearing loss

Occasional abnormalities

Dysplastic hip

Madelung deformity (radial deviation of hand because of abnormal

ulnar or radial growth)

ScoliosisKyphosis

Vertebral fusionPtosisStrabismusBlue scleraeCataractHemangiomata, rarely of intestine

Tendency to form keloids

Tendency to obesityIdiopathic hypertensionDiabetes mellitusjAbnormal glucose toleranceCrohn disease

Thyroid disorders

Ulcerative colitis

* Modified from Jones KL.”

t Incidence figures in published studies vary with source of data and population characteristics.:1:Controversial. See text.

Approximate Incidence (%)t

100

>90>80>80>80>80>70

>40>80

50>70

>60>50>70

>50>40>20

>60

>50

ing (an alteration in the expression of a gene or achromosome, depending on whether the genetic ma-terial is inherited from the mother or father) does notseem to operate, because the phenotype of an mdi-vidual with 45,X does not vary according to theparental origin of the X chromosome.’#{176}

When the diagnosis of Turner syndrome is sus-pected, the appropriate test is chromosome analysis.A wide range of karyotypic abnormalities exists inTurner syndrome. When conventional karyotypingis done from lymphocyte cultures, about 50% of pa-tients show a 45,X chromosome constitution. Otherkaryotypes found with Turner syndrome are mosa-

icism of 45,X with other cell lines such as 46,XX,46,XY, or 47,XXX. Structural anomalies of an X chro-mosome, such as isochromosomes (an abnormalchromosome with equal arms originating from atransverse division of the centromere during cell di-vision, instead of the normal longitudinal division),deletions, rings, or translocations, also may be foundin Turner syndrome. Structural X anomalies are of-

ten mosaic with 45,X or 46,XX cells. Although mosa-icism with a 46,XX line (which is the most frequentmosaicism found with 45,X) tends to be a more “nor-ma!” phenotype on the average, the clinical findingscannot be predicted in an individual case.

In fact, mosaicism in Turner syndrome may bemore common than previously thought. When twotissues (lymphocytes and fibroblasts) were exam-ined, about 80% of patients with 45,X Turner syn-drome were found to be mosaics.” Mosaicism inlive-born girls with Turner syndrome is more fre-quent than that in fetuses with Turner syndrome,suggesting that a second sex chromosome (or a crit-

ical portion of a second sex chromosome) may benecessary for fetal survival and that most, or perhapsall, individuals with Turner syndrome are mosa-

Girls with 45,X Turner syndrome should have anadequate cytogenetic and DNA examination for co-vert Y chromosome mosaicism or a covert Y cell line.When the karyotype shows a marker chromosome


1168 AMERICAN ACADEMY OF PEDIATRICS

(a structurally abnormal chromosome that cannot beidentified by conventional cytogenetic methods) of

unknown origin, molecular studies using Y chrorno-some DNA probes may be helpful in the diagnosis.The possibility of Y chromosome mosaicism alsoshould be investigated thoroughly if citoromegalyor masculinized genitalia are present at birth or ifvirilization occurs at puberty. When Y chromosomemosaicism is present, there is an increased risk,estimated from 15% to 25%, for developing gonado-blastorna and dysgerminoma in the dysgeneticgonads,’3”4 and prophylactic gonadectorny is recom-mended.

Buccal smears for X chromatin bodies (Barr bodies)when Turner syndrome is suspected do not havesufficient sensitivity and specificity, even for screen-ing. Individuals with mosaicism or a structural Xabnormality may be X chromatin positive. Also, a Ychromosome would not be detected in a routinebuccal smear with examination only for X chrornatinbodies.

MEDICAL TREATMENT

The medical care of children with Turner syn-drome requires ongoing assessment and periodic re-view at appropriate ages (Table 2), including thefollowing:

1. Check the child’s blood pressure and peripheralpulses during each physical examination. Al-though idiopathic hypertension is found in

Turner syndrome, a careful search for cardiac orrenal causes should be made.

2. Specifically check for serous otitis and otitis mediaon every visit, and, if present, institute aggressivetreatment. Evaluate the child’s hearing, especiallyif otitis has been present. Hearing loss, which iscommon in Turner syndrome, may be conductiveor sensorineural.

3. If the child’s features are significantly dysmor-phic, consider plastic surgery for the neck, face, or

ears to improve appearance before the child entersschool and thereafter, as indicated. Some individ-uals with Turner syndrome have a tendency toform keloids,’5 which must be taken into accountwhen surgery is considered.

4. Discuss diet and exercise for weight control,because obesity may be a problem in Turnersyndrome.’6

5. Perform routine urinalysis annually to monitor fordiabetes meffitus. Glucose intolerance occursmore frequently in persons with Turner syndromethan in the general population; however, frankdiabetes meffitus seems to be rare.’7”8

6. Review the psychological support available to thechild and family to optimize the child’s psycho-social adjustment.

7. Encourage family support by referral to individ-ua!s with Turner syndrome, parents of childrenwith Turner syndrome, or a Turner syndromesupport group. Supply the family with literature

TABLE 2. Health Supe rvision C uidelines for Children W ith T urner Syndrome*

Prenatal Infancy (1 mo-I y) Early Child hood (1 -5 y) LateChildhood

(5.43 y)

Adolescence(13-21 y)

AnnualNeonatal 2 4 6 9 12 15 18 24 3 y 4 y 5 ymo mo mo mo mo mo mo mo Annual

DiagnosisKaryotype review (1) (2) (2)Phenotype review (1) (2) (2)Recurrence risks (1) (2) (2)

Anticipatory guidance

Reviewfamily #{149} #{149} #{149}#{149}#{149} #{149} #{149} #{149}#{149}#{149} #{149} #{149} #{149} #{149} #{149}support

Stress support groups #{149} #{149} #{149} #{149} #{149}#{149} #{149} #{149} (3) (3)Long-term planning #{149} #{149} #{149} S #{149}#{149} #{149} #{149} #{149} #{149}

Medical evaluation andtreatment

Growth #{149} #{149} #{149}#{149}#{149} . . ... . . . #{149}(2) (2)Bloodpressure #{149} #{149}#{149}#{149} #{149} #{149} #{149}#{149}#{149} #{149} S #{149} #{149} #{149}

and pulses

Hearing screening (5) 5 5 5 5 5 5 5 5 5 0 5 5 5/0 (3) 5/0 (3)

Vision screening (5) 5 5 5 5 5 S S S S S S S S SSexual development (6) (6) (2) #{149}(2)Thyroid screening (4) #{149} #{149}#{149} #{149} S (6) (6)Echocardiogram (6) #{149} (2) #{149} #{149} S #{149} #{149} #{149} #{149} #{149}Renal sonogram (6) #{149} SSerum gonadotropins 5(3)

(LH and FSH)Psychosocial evaluation

Development and S S S S S S S S S 5(2) 5 5(2) 5 5(2)

behavior (5)

School performance (5) 5(2) 5(2) 5(2) 5(2) 5(2)Socialization S 555 S S 555 5 5 5 5 SSexual issues 5(2) 5(2)

* Assure compliance with the American Academy of Pediatrics Recommendations for Preventive Pediatric Health Care. (1), at time of

diagnosis; (2), discuss referral to specialist; (3), give once in this age group; (4), according to state’s screening program; (5), objective testingwhen indicated by history or examination findings; (6), see “discussion”; 5, to be performed; 5, subjective, by history; 0, objective, by astandard testing method.



on Turner syndrome (see “Bibliography andResources for Parents”).

THE PRENATAL VISIT

When a prenatal diagnosis of 45,X or anotherkaryotype associated with Turner syndrome is made,counseling is ordinarily provided for the family by amedical geneticist, a pediatric endocrinologist, or an-other physician with special knowledge of Turnersyndrome. Sometimes because of a previous relation-ship with the family, the pediatrician may be askedto review the information and to assist the family indecision making.

Prenatal diagnosis of Turner syndrome may havebeen made or suspected because of ultrasonographicevidence of fetal edema or nuchal cystic hygroma, oran abnormal karyotype discovered when fetal chro-mosorne analysis was done for other reasons, such asadvanced maternal age. Results of maternal serumscreening with multiple markers (maternal seruma-fetoprotein, human chorionic gonadotropin, andunconjugated estriol) projecting an increased risk forDown syndrome also have detected some fetuseswith Turner syndrome.’9 Ultrasonography showinga left-sided cardiac anomaly (Table 1), growth retar-dation, or relatively short limbs also may suggestTurner syndrome. If an abnormality associated withTurner syndrome is diagnosed by ultrasound, or ifmultiple marker screening is positive, the recom-mended follow-up is fetal karyotyping, using amni-

otic fluid cells obtained by amniocentesis or fetalblood obtained by percutaneous umbilical bloodsampling when the karyotype is needed morerapidly.

The spectrum of clinical findings cannot be pre-dicted from the fetal karyotype alone, even in non-mosaic 45,X. The variability may be increased bymosaicism, which is often not detected in the fetalchromosome analysis. A diagnosis of Turner syn-drome made solely by fetal karyotyping should befollowed up with careful ultrasonography to de-fine the phenotypic abnormalities as accurately aspossible.

Most instances of mosaicism of 45,X/46,XY diag-nosed prenatally have been associated with pheno-typically healthy male newborn infants, although thepossibility of some clinical abnormality later in lifehas not yet been excluded. If a fetal karyotype of45,X/46,XY is found, ultrasound examination ishelpful in diagnosing normal-appearing male geni-talia. Amniotic fluid follicle-stimulating hormoneand (FSH) testosterone determinations also may behelpful in confirming the male phenotype.

Anticipatory Guidance

Discuss the diagnosis of Turner syndrome, thephenotype, and the variability of the phenotype.Both parents should be present whenever possible.They need to know that short stature and infertilityare likely, mental retardation is unlikely, some con-genital anomalies may be present (Table 1), andsome learning difficulties are expected.

Discuss the treatments and interventions available,such as sex hormone replacement and growth-

enhancing therapy, and emphasize that with medicalsupervision and psychosocial counseling and sup-port, girls with Turner syndrome may lead healthy,satisfying lives. In cases of early prenatal diagnosis,however, some parents may decide to terminate theirpregnancies.

The risk for having a fetus or child with Turnersyndrome is not related to advanced maternal age.Most often, Turner syndrome is a sporadic event,and the risk of recurrence is not increased for subse-quent pregnancies. There may be some rare excep-tions, however, such as inheritance of a structural Xanomaly and inherited rnosaicism.20’2l

HEALTh SUPERVISION FROM BIRThTO 1 MONTh: NEWBORNS

Examination and Laboratory Studies

Confirm the diagnosis of Turner syndrome andreview the karyotype. If a prenatal diagnosis wasmade, discuss with the geneticist whether furthercytogenetic studies should be performed. Chromo-some analyses from peripheral blood or other tissuesmay be indicated depending on the adequacy of theprenatal study and the possibility of mosaicism, es-pecially for the Y chromosome. Evaluate the child fortypical features of Turner syndrome (Table 1) asfollows.

1 . Examine the child’s hips for dysplasia.’5 Repeatthe examination several times during earlyinfancy.

2. Obtain an echocardiogram. Give special attentionto the possibility of left-sided cardiac anomalies(Table 1).

3. Obtain an initial consultation with a pediatric car-diologist for all persons with Turner syndromewho have abnormal echocardiograms.

4. Obtain a renal sonograrn (or repeat the sonograrnif it was done prenatally). Although some of therenal anomalies listed in Table I are not clinicallysignificant, others may predispose the child tourinary tract infections, hydronephrosis, andhypertension.


I . Distinguish the anomalies requiring careful med-ical treatment (eg, cardiac and renal anomalies)from those of primarily cosmetic and psycho!ogi-cal importance.

2. Inform the family that lymphedema may persistfor months or may recur.

3. Discuss the possibility of feeding problems. Someinfants with Turner syndrome have inefficientsucking and swallowing reflexes because of irn-paired oral motor function.�

4. Discuss the current status of endocrine therapy forgrowth and for the development of secondary sexcharacteristics. Indicate that infertility is almostalways present, although assisted reproductiontechniques may enable infertile couples to havechildren.23

5. Discuss subacute bacterial endocarditis prophy-laxis if a cardiac anomaly is present.



6. Talk about how and what to tell other familymembers and friends.

HEALTH SUPERVISION FROM 1 MONTh

TO 1 YEAR: INFANCY


I . Assess the infant’s weight, taking into accountthat many infants with congenital lymphedemalose weight during the first month because ofdiuresis.

2. Perform an ophthalmologic evaluation. Nona!ter-nating strabismus may be present. Refer the infantto an ophthalmologist as soon as strabismus isdiagnosed.

3. Obtain an echocardiogram, even if one was ob-tamed in the newborn period, because abnormal-ities of the aortic valve may not have been iden-tified.


I . Provide prophylaxis for subacute bacterial endo-carditis if a cardiac anomaly is present. Subacutebacterial endocarditis is rare in infancy.

2. If urinary tract abnormalities are present, performa urinalysis and culture when indicated for pos-sible urinary tract infections. Ultrasonography isalso advised if urinary tract infections recur orhypertension develops.

3. Consider referring the infant to an appropriatepediatric specialist if cardiac, renal, or eye abnor-malities are found.

4. Consider referring the infant to developmentalintervention programs if neuromuscular develop-ment is delayed.

HEALTh SUPERVISION FROM 1 TO 5 YEARS:EARLY CHILDHOOD


1 . Follow the child’s growth on the Turner syn-drome growth curve, starting at 2 years (Figure).

2. Evaluate the child’s speech and refer the child to aspeech therapist when appropriate.

3. Continue to evaluate the child’s cardiac statuswith an echocardiogram or magnetic resonanceimaging scan at yearly intervals. A magnetic res-onance imaging scan may be preferable for exam-ination of the aorta. Because aortic dissection is aserious complication, the aortic root should beevaluated carefully for dilatation. About 9% ofpatients with Turner syndrome had unrecognizedaortic root dilatation in one study.24 These patientsare at substantial risk for aortic dissection. There-fore, it is recommended that the child be referredto a pediatric cardiologist if dilatation of the aorticroot is suspected or confirmed to be present.

4. Continue to evaluate the child’s renal status (uri-nalysis and culture, as indicated) if a renal anom-aly is present.

5. Test for thyroid function at 1- to 2-year intervalsbecause of the increased frequency of hypothy-roidism, usually caused by autoimmune thyroid-itis.�


Evaluate the child for possible learning difficulties,particularly spatial perception problems. A specialpsychological assessment of the child before enteringa preschool program may benefit the child and par-ents as well as school personnel. Information abouttesting and evaluation resources may be obtainedfrom the school or from state and regional programsfor persons with developmental disabilities.

HEALTh SUPERVISION FROM 5 TO 13 YEARS:LATE CHILDHOOD


I . Discuss the diagnosis and treatment of Turnersyndrome with the child, as soon as he or she isable to understand, as well as with the parents.

2. Monitor the child for urinary tract infections.3. Check the child’s dentition for malocclusion.4. Continue to obtain an echocardiogram each year if

a cardiac anomaly is present, otherwise obtain anechocardiogram at 2-year intervals. The pediatri-cian may prefer to have the child treated by apediatric cardiologist.

5. Continue testing for thyroid function at 1- or2-year intervals.

6. Check for scoliosis yearly. Lordosis and kyphosisare also seen more frequently in girls with Turnersyndrome.


I . Watch for potential school problems, such as spe-cific learning disabilities, attention deficits, hyper-activity, and difficulty in developing social skills.Refer the child for educational evaluation andintervention, as indicated. Encourage parents tointeract with school personnel.

2. Discuss adjustment to short stature with the par-ents and separately with the child.

3. Refer the child to a pediatric endocrinologist forconsideration of hormonal growth-enhancingtherapy. Ordinarily such therapy is begun before10 years of age and may be advised when thechild’s height falls below the fifth percentile forhealthy children that age. Biosynthetic humangrowth hormone alone or in conjunction with an-drogen (oxandrolone) increases the rate of growthin most girls with Turner syndrome without ad-vancing the bone age.26 Although preliminary re-sults suggest that adult height in Turner syn-drome may be increased by this therapy, the effectof growth hormone on final height and possiblelong-term side effects are unknown.27

HEALTh SUPERVISION FROM 13 TO 21 YEARS OROLDER: ADOLESCENCE TO EARLY ADULThOOD


1 . Examine the adolescent for pigmented nevi,which may not be prominent in young childrenbut tend to increase in frequency in adolescenceand older ages. Pigmented nevi have primarilycosmetic significance. Advise removal of the nevi


TURNER GIRLS: 2 TO 19 YEARS

PHYSiCAL GROWTH NAME_____________________________ RECORD #____________--.--� ._I � I . I #{149} I , .�_! � I � I . I � I . I . I � 1 , I . I � � �

77 - -� � -4� � 5 �- 6-�--7-�8�-9- � -1O�1 1 �12�13�14 � � � � 77i��:: liii i� 9

76- j�jj II �

75-f�j7j:....j...L.j.....L... .L__l_:: :::_ ::: : ::: : ::: : :74 liii DATEHEKHT ��___ � 74

73-f� = = : : : : : : : : = : : : : : : 185-73

72-� � �72

71-180 - - --- � --- - - 180-71

70--- ____--------70

69-i75 = = : = = = = : : : : : : : : � : : : : f�-69

68-1111 �-�----EE � EEE EE� � EEE � � � � � :iiii-68

67-170 -- -66-1111 --�- � : : : = : : : : : :�: : : : : : : : : 111111-66

65-165 - � - - - - - - - 165-65

64-� -64�- �-- - 5063-160 160-63

62- - .- - -62

61 - 155 � � � 155 -61

130- � � � � -� - -60

�g-�50 5 150-59

58 - � � � � - - 58

57-145 95 �5-57

56- - -56-- - - 9055�140 1_40�55

54- 75 -54

53.135 1355350

52- -52

51�130 25 13051

50- --- -50

49125 1: 12540

48- -46

47120 12047

46- . - -46

45115 11545

44 - - 44

43110 11043

42- -42

41�105 10541

40- -40

39100 10039

38- -38

37- 95 95 -37

36- -3635- 90 90

34- -3485 85

33- -33

32- 80 80 -32

31- -31

30- � 75 -30

29- -2928- � 70 -28

27- -27

26- 65 65 -26

25- -25

in cm cm in

2 3 4 � -5 � 6 � 7 8 9 � 10 -11 12 13 14-i- 15 --16 17 18 19

Figure. Turner syndrome growth curve. A, healthy girls. Percentiles are derived from the National Center for Health Statistics. #{149},

untreated patients with Turner syndrome. Turner percentiles are from Lyon et al.2

if they are rubbed by clothing. Melanoma has 4. Continue to test the adolescent’s thyroid functionbeen rare.28 every 1 to 2 years.

2. Check the adolescent annually for scoliosis. 5. Monitor luteinizing hormone and FSH levels. Lu-3. Obtain an echocardiogram for aortic dilatation teinizing hormone and FSH may be normal in

every 2 years or annually if a bicuspid aortic valve childhood but are significantly elevated by 10-Ilis present. years in Turner syndrome. Evaluate the adoles-




cent for secondary sexual development. Ten per-cent of patients with Turner syndrome go throughpuberty spontaneously.


1 . Consider referring the adolescent to a pediatricendocrinologist or tertiary care center for medicaltreatment of sex hormone replacement. The pro-tocol for hormone replacement therapy needs tobe designed in consultation with a pediatric en-docrinologist.

2. Provide estrogen therapy, then cyclic therapy atan appropriate age, after checking to be certainthat gonadotropin levels are elevated. If possible,wait until the adolescent is about 15 years of ageto begin estrogen therapy to maximize height.Treatment, however, should be individualized tothe patient’s psychosocial needs, as well as coor-dinated with growth-enhancing therapy whenelected.

3. If lymphedema is exacerbated by estrogen ther-apy, suggest support hose and diuretics, whichare sometimes helpful.

4. Orthopedic leg-lengthening procedures are some-times recommended for patients with fusedepiphyses.

5. Continue to monitor school function and behav-ior.

6. Discuss social adaptation. Girls with Turner syn-drome tend to be socially immature for their ageand need support in developing independenceand social, particularly heterosexual, interactions.Support groups composed of girls with Turnersyndrome are especially helpful. Provide psycho-sexual counseling.

7. Present information on reproductive options tohaving children, such as adoption and medicallyassisted reproduction.

8. Refer for genetic counseling and prenatal diagno-sis the rare girl with Turner syndrome who hassufficient ovarian function to ovulate and whomay become pregnant. These pregnancies are atincreased risk for fetal chromosome abnormalitiesand miscathages.� Offer contraception advicewhen appropriate.

9. Facilitate transfer of the adolescent to adult med-ical care.

COMMI-I-I-EE ON GENETICS, 1994 TO 1995Margretta R. Seashore, MD, ChairpersonSechin Cho, MDFranklin Desposito, MD

Jack Sherman, MDRebecca S. Wappner, MDMiriam G. Wilson, MD

LIAIsoN REPRESENTATIVES

Felix de la Cruz, MDNational Institutes of Health

James W. Hanson, MDAmerican College of Medical Genetics

Jane Lin-Fu, MDHealth Resources and Services Administration

Paul G. McDonough, MDAmerican College of Obstetricians andGynecologists

Godfrey Oakley, MDCenters for Disease Control and Prevention

AAP SECTION LIAISON

Beth A. Fletcher, MDSection on Genetics and Birth Defects

CONSULTANTSJudith Hall, MDMichael Mennuti, MD

Lester Weiss, MD

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Gynecol. 1974;44:298-309,455-.46214. Verp MS, Simpson JL Abnormal sexual differentiation and neoplasia.

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1988:74-75

16. DelgadojA, Trahms CM, Sybert VP. Measurement ofbody fat in Turner

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