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Objective: The aim was to evaluate the results of diagnosis, follow-up and treatment of the patients who recieved growth hormone (GH) treatment for the last 10 years and to determine the differences in the process and results over the years., Methods: Anthropometric, clinical, laboratory data, treatment adherence and side effects were evaluated retrospectively in 767 patients who recieved GH treatment between 2009-2018. Patients were grouped as isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), small for gestational age (SGA), and Turner syndrome (TS) depending on diagnosis., Results: GH treatment was started in 689 cases (89.8%) with IGHD, 24 (3.1%) with MPHD, 26 (3.4%) with SGA and 28 (3.7%) with TS. Median age of GH treatment onset was the earliest in SGA (8.4 years) and the latest in the IGHD group (12.0 years). At the time of treatment cessation, height standard deviation score (SDS) in IGHD and MPHD was significantly higher than treatment initiation time, whereas there was no significant difference in TS and SGA. One hundred eighty-nine cases reached the final height. Final heights for girls/boys were: IGHD 154/164.9 cm; MPHD 156.2/163.5 cm; TS 146.7 cm; and SGA 145.7/-cm, respectively. Target height SDS-final height SDS median values were IGHD: 0.1, MPHD: 0.6, SGA: 0.5, TS: 2.4 respectively. The patients’ treatment compliance was high (92%) and the incidence of side effects was low (2.7%)., Conclusion: In our cohort, GH treatment start age was late and no difference in this was observed in the last 10 years. The improvement in the height SDS was most marked in the IGHD and MPHD groups, the least in the TS and SGA groups.

Turner syndrome (TS) is the most common chromosomal abnormality in females, affecting up to 1/2000 live female births. TS is associated with partial or complete loss of the second X-chromosome in phenotypic females and is associated with increased morbidity and mortality. There are many challenges in providing optimal care for the adult TS women. This review highlights uncertainties that remain in hormone replacement therapy, bone health and cardiovascular optimization and discusses current management recommendations based on the recently published international guidelines and the experience at the TS clinic at Monash Health.

Background: Clinical suspicion of Turner syndrome (TS) may be challenging. Short stature and absent puberty are not mandatory and the dysmorphic picture is widely variable. The aim of the study was to describe a representative sample of patients with suspected TS in a single center and to verify which set of features may help discriminate those with TS., Methods: This was a retrospective study of patients with suspected TS evaluated between 1989 and 2012 with the same clinical and cytogenetic protocols. Data regarding reason for referral, age and height at diagnosis, birth data, pubertal features and dysmorphisms were analyzed., Results: TS was diagnosed in 36% of 516 patients; structural chromosome anomalies predominated (42%). Short stature was the main reason for referral of patients with and without TS. The mean age of patients at first visit, with TS or without TS was similar (11.89 and 11.35 years, respectively), however, infants and adolescents predominated in the TS group. The mean full-term birth weight was lower in patients with TS as well as height at diagnosis, but normal height z-score was found in 17% of patients. Spontaneous puberty occurred in 30% of TS patients aged 13 years or more, but most had pubertal delay. Residual lymphedema, webbed neck, cubitus valgus, hyperconvex nails, shield chest, abnormal nipples, pigmented nevi, short fourth metacarpal and shorter height were the best discriminators for girls with TS., Conclusions: Though short stature, pubertal delay and typical stigmata should prompt investigation of TS, lack of one of these features should not exclude this hypothesis. Dysmorphisms other than those considered "typical" should be sought on physical examination.

Growth is a good indicator of a child's health. Growth disturbances, including short stature or growth failure, could be indications of illnesses such as chronic disease, nutritional deficits, celiac disease or hormonal abnormalities. Therefore, a careful assessment of the various requirements for normal growth needs to be done by history, physical examination, and screening laboratory tests. More details will be reviewed about the GH-IGF axis, its abnormalities with special emphasis on GH deficiency, its diagnosis and treatment. GH treatment indications in the US will be reviewed and a few only will be highlighted. They will include GH deficiency, as well as the treatment of children born SGA, including the results of a US study using FDA approved dose of 0.48mg/kg/week. GH deficiency in adults will also be briefly reviewed. Treatment of patients with SHOX deficiency will also be discussed. Possible side effects of GH treatment and the importance of monitoring safety will be highlighted., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Aims: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity., Methods: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled. All subjects underwent MLPA and karyotype analysis. In the TS and Short-Stature Groups, MLPA testing was performed in blind., Results: The choice of an MLPA threshold ratio of 0.76 for at least 1 probe allowed us to detect all TS cases, including mosaicisms. Sensitivity and specificity were 100% (CI 95%, 0.92-1) and 88.89% (CI 95%, 0.79-0.94), respectively. The positive predictive value was 88.5%, and the negative predictive value was 100%. MLPA detected the presence of Y chromosome material in 2 patients., Conclusion: MLPA is an accurate and inexpensive tool to screen for TS in girls with short stature. A customized MLPA kit may be useful for the screening of an even larger population., (© 2016 S. Karger AG, Basel.)

Background: Recombinant human growth hormone (rhGH) availability has allowed the treatment of a greater number of growth disorders. It is important to get an insight into the clinical characteristics of the paediatric population before rhGH treatment., Methods: An observational, retrospective and multicentre study was conducted to evaluate the patients' baseline characteristics prior to rhGH therapy., Results: A total of 1404 patients (53.8% males) aged 0.5-17.3 years were included. Clinical conditions were as follows: GH deficiency (GHD), 66.0%; small for gestational age (SGA), 29.7%; and Turner syndrome (TS), 4.3%. Male gender was predominant in most growth disorders; age at diagnosis was higher in GHD patients; therapy with rhGH started at lower chronological age in SGA and TS groups., Conclusion: The baseline characteristics of the population to be treated with rhGH were similar to those reported in other growth databases. Delayed age at treatment initiation should increase the awareness of these disorders among general paediatricians and entice them to refer children suspected of having these disorders to a specialist.

Context: Turner syndrome (TS), in which there is loss of all or part of one sex chromosome, occurs in one in 2500 live-born females and is associated with characteristic findings. Detailed healthcare checklists and screening guidelines are commonly used to detect known complications affecting individuals with TS. Even with the use of these guidelines, there remains an increased morbidity and mortality seen in TS as compared to the general population, leading to significant controversy on optimal management of several aspects of TS., Evidence Acquisition and Synthesis: A PubMed search of articles from the past 15 yr identified available studies related to the diagnosis and management of common issues related to TS as well as important historical articles. This review summarizes studies through January 2012 and highlights recent developments., Conclusions: There remain many areas of uncertainty in the diagnosis and management of TS. Generalizations from experience in the care of other conditions in isolation (such as poor growth, follow-up of cardiac disease, or the treatment of ovarian failure) cannot be broadly applied when caring for individuals with TS. Specific differences include treatment of growth failure as early as possible; acquisition of adequate baseline cardiac studies, followed by serial magnetic resonance imaging, targeted to identify findings unique to TS that address the increased risk of aortic dissection; initiation of hormone replacement at the normal age of puberty, preferentially with transdermal estradiol; and detailed patient counseling to explain the long-term health risks commonly associated with this disorder. A revised paradigm of care using a standardized multidisciplinary evaluation, supplementing screening tests as advocated by expert opinion guidelines, can aid clinicians in interpreting the results of diagnostic testing in the context of TS. This approach optimizes medical care for women with TS and may reduce the increased morbidity and mortality currently seen in this population.

Background/aims: The study aim was to develop and validate models for long-term prediction of growth in prepubertal children with idiopathic growth hormone deficiency (GHD) or Turner syndrome (TS) for optimal, cost-effective growth hormone (GH) therapy., Methods: Height was predicted by sequential application of annual prediction algorithms for height velocity in cohorts of GHD (n = 664) and TS (n = 607) as documented within KIGS (Pfizer International Growth Database). As height prediction models also require an estimate of weight, new algorithms for weight increase during the first to fourth prepubertal years on GH were developed., Results: When height was predicted from the start of GH treatment, the predicted and observed mean (SD) gain over 4 years was 30.4 (3.4) cm and 30.1 (4.9) cm, respectively, in GHD patients, and 27.2 (2.2) cm and 26.6 (3.5) cm, respectively, in TS patients. For all 4 years, gains of weight SD scores (SDS) were accurately described as a function of weight SDS and observed gain in height SDS (R(2) > 0.89)., Conclusion: In GHD and TS patients treated with GH, an accurate prepubertal long-term prediction of height development in groups is possible. Based on this, an optimal individual height outcome could be simulated., (Copyright © 2012 S. Karger AG, Basel.)

Introduction: Regularly conducted assessment of body proportions is of importance as early detection of possible growth disorders and immediate prevention may allow gathering an optimum of child's genetically conditioned level of development., Aim of the Study: To assess body proportions of adolescent girls, healthy or with growth deficiency., Material and Methods: Three groups were studied: 104 healthy, short-statured girls (body height below the 10th percentile), 84 girls with Turner's syndrome (ZT) and 263 healthy girls of normal stature (between percentiles 25 and 75), all aged 11-15 years. The following measurements were conducted according to common anthropometric standards: body height, sitting body height, shoulder width, upper extremity length and lower extremity length - the last one was computed as the difference between standing and sitting body heights. All measurements were converted to logarithms and allometric linear regressions vs log body height were computed., Results: The Turner girls proved to have allometrically shorter legs (p<0.001) and wider shoulders (p<0.001) compared with both groups of healthy girls, and longer upper extremities (p<0.001) compared with the girls of normal stature. Healthy, short-statured girls had longer lower extremities (p<0.001) as compared to other groups; they also had wider shoulders (p<0.001) and longer upper extremities (p<0.001) compared to healthy girls of normal height., Conclusions: Allometric relations of anthropometric measurements enable a deeper insight into the body proportions, especially in the growth period. The presented discrimination of Turner girls may serve as a screening test, and recommendation for further clinical treatment.

Introduction: Short stature, defined as body height below the 10th percentile (<-1.2 SDS for sex and age) is often a reason for referring children to the paediatric endocrinology department. The most frequent diagnoses are: CDGP (constitutional delay of growth and puberty), FSS (familiar short stature), GHD (growth hormone deficiency), Turner's syndrome (TS). The aim of the study was an analysis of reasons for short stature and evaluation of the frequency of GHD and TS in short stature children in own clinical material., Material and Methods: 1314 patients with short stature, aged 1 to 18 years (790 boys and 524 girls). Diagnostic procedures included an interview, physical examination, measurements of body weight and height, parents' height. Birth weight and length were analyzed. Anthropometric measurements were done by anthropologist according to current criteria. The values of somatic measurements were normalized according to the Institute of Mother and Child references 2001. Body height deficiency was from -1.2 SDS (10 percentile) to -4.0 SDS (<< 3rd percentile)., Results: 60% boys and 40% girls were in our group, at average age 10.27 +/- 3,84 years. In 246 children (18.7%) growth hormone deficiency was diagnosed: 176 boys and 70 girls. 49 girls had Turner's syndrome, 4 had coeliac disease (0.3%) and 4 boys had Noonan syndrome (0.5% boys). In 1011 children (76.9%) neither somatic disorders nor growth hormone deficiency were diagnosed. In 19% children low birth parameters were observed. No correlation between birth parameters and body height deficiency was observed., Conclusions: 1. GHD was diagnosed in 18,7% children and Turner's syndrome was diagnosed in 9,4% girls. In the majority of children birth parameters do not determine short stature. 2. Low birth parameters were more frequent in girls with TS than in other children.

Every year a several percent of newborns is affected with deficient body size, in some of these cases can be identified growth disorders, for examples Turner's Syndrome, Noonan Syndrome, idiopathic growth hormone deficiency. Clinical records of such newborns, aimed at monitoring their growth, do not exist so far. Screening for body size deficiencies requires only that the measurements of body length and mass be appropriately performed and this would be much less costly than screenings for congenital metabolic diseases. These recommendations are supported by the fact that in recent decades the risk of growth disorders and/or short stature (body height below -2 SDS upon full skeletal maturity) of children with deficient body size at birth is 5- to 7-fold higher than in those with normal body size relative the time of delivery. Moreover, in the former newborns the risk of behavioural/psychosocial disorders, hypertension, CHD, Type 2 diabetes and several other hormonal disorders were shown to be also higher than in the "normal"-born ones. The number of the so afflicted individuals and costs of potential therapies evidence the indispensability of a widespread detection of deficient body size at birth and a subsequent growth monitoring consisting of measuring body length/height 4 times in the course of the first year of life and twice a year thereafter.

Background: As abnormal growth might be the first manifestation of undetected diseases, it is important to have accurate referral criteria and a proper diagnostic work-up. In the present paper we evaluate the diagnostic work-up in secondary health care according to existing consensus guidelines and study the frequency of underlying medical disorders., Methods: Data on growth and additional diagnostic procedures were collected from medical records of new patients referred for short stature to the outpatient clinics of the general paediatric departments of two hospitals (Erasmus MC - Sophia Children's Hospital, Rotterdam and Spaarne Hospital, Haarlem) between January 1998 and December 2002. As the Dutch Consensus Guideline (DCG) is the only guideline addressing referral criteria as well as diagnostic work-up, the analyses were based on its seven auxological referral criteria to determine the characteristics of children who are incorrectly referred and the adequacy of workup of those who are referred., Results: Twenty four percent of children older than 3 years were inappropriately referred (NCR). Of the correctly referred children 74-88% were short corrected for parental height, 40-61% had a height SDS <-2.5 and 21% showed height deflection (Delta HSDS < -0.25/yr or Delta HSDS < -1). In none of the children a complete detailed routine diagnostic work up was performed and in more than 30% no routine laboratory examination was done at all. Pathologic causes of short stature were found in 27 children (5%)., Conclusion: Existing guidelines for workup of children with suspected growth failure are poorly implemented. Although poorly implemented the DCG detects at least 5% pathologic causes of growth failure in children referred for short stature. New guidelines for referral are required with a better sensitivity and specificity, wherein distance to target height should get more attention. The general diagnostic work up for short stature should include testing for celiac disease in all children and for Turner syndrome in girls.

The standard deviation score (SDS) is a powerful tool for screening for growth-related problems. However, referral rules of the type 'if SDS(Y)

Combined cytogenetic, fluorescence in situ hybridization (FISH), and molecular analysis are useful in the diagnosis of sex chromosome aberrations. These methods were used in karyotype analysis of a 4-year-old girl with mild dysmorphism and growth retardation. Standard cytogenetic and FISH analysis was done on slides obtained from peripheral blood lymphocyte culture, and the molecular study was performed by using DNA polymorphism analysis. Both parents had normal karyotypes. Chromosome analysis of the proband identified the karyotype with 46 chromosomes and a late replicating dicentric X. Interphase FISH with an alpha satellite X centromere probe revealed two mosaic cell lines. Three signals were observed at 84.5% and one signal at 15.5% of the interphase cells. Molecular analysis showed that the dicentric X chromosome was of paternal origin. Based on this study, we concluded that the karyotype of the patient was 45,X/46,X, psu idic(X)(q22.3), with the trisomy Xpter-->q22.3 and monosomy Xqter-->q22.3. Dicentric X was the result of an isolocal break in both chromatids of the paternal X chromosome and subsequent rejoining of the broken ends, followed by the inactivation of one centromere. This study illustrates the usefulness of combined cytogenetic and molecular investigations for the detection of mosaicism, understanding the mechanism of the formation and parental origin of chromosomal rearrangement, and establishing the diagnosis.

Turner syndrome (TS) is the most common chromosomal disorder causing short stature in females. The short stature is caused at least in part by haploinsufficiency of the short stature homeobox (SHOX) gene. Complete spontaneous puberty may occur in approximately 16% of patients, with spontaneous pregnancy in up to 4%. The final height of untreated TS girls is 86-88% of the mean adult female height. Growth hormone (GH) given alone or with oxandrolone improves final height. The major factors determining the outcome of GH therapy are the dose of GH used and the number of years of GH therapy prior to oestrogenization. Pubertal induction in TS should be individualized bearing in mind growth optimization and psychological issues. Adolescents and adults with TS may face a range of medical, fertility and psychosocial issues. Psychological support for TS individuals and families is important throughout life and should ideally be provided by both health professionals and TS support groups.

The goals of this study were to test the hypothesis that girls with Turner syndrome (TS) experience growth failure early in life and to establish model-based normative growth charts for 0- to 8-year-old American girls with TS. Full-term girls with TS who had 5 or more measurements of height obtained during their first 10 years of life prior to initiation of growth hormone, estrogen and/or androgen therapy were eligible for this study. A nonlinear mixed-effects model comprising the first two components of the infancy-childhood-puberty (ICP) model of growth was fitted to the longitudinal height measurements and compared with those of healthy American girls. Height measurements (n = 1,146) from 112 girls with TS (45,X: 57.1%; 45,X/46,XX: 12.5%; 46,X, iso(X): 4.5%, and other: 25.9%) were analyzed. Mean height SDS fell from -0.68 at birth to -1.60 at 1 year, -1.80 at 2 years and -1.95 at 3 years. When compared to controls (676 girls, 4,537 measurements), girls with TS grew more slowly due to three principal factors: a slow growth rate of the infancy component, a slow growth rate at the onset of the childhood component, and delayed onset of the childhood component. Traditional concepts of growth failure in TS should be revised. Physicians should consider the diagnosis of TS in any girl with unexplained failure to thrive or short stature, even in the first 3 years of life., (Copyright 2002 S. Karger AG, Basel)

Turner's syndrome (TS) is a common disorder (1/2500 to 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood or at puberty for the rest. Growth retardation is the most frequent clinical feature of TS, so we systematically searched for TS in female patients referred to our center because of short stature. Three hundred seventy-five female patients, 1 month to 18 yr old (mean +/- SD = 9(7/12) +/- 3(9/12), with growth retardation (less than -2 SD) and/or decreased height velocity were included in the study. Mean growth retardation was -2.57 SD +/- 0.79 (range: -1 to -7). Thirty-two percent of the patients had reached puberty. GH provocative tests were performed in 329 patients (87.7%), and 36 of these patients (11%) had impaired GH secretion (5 complete and 31 partial GH deficiency). TS was evaluated by Southern blot analysis of leukocyte DNA using a multiallelic polymorphic X chromosome marker (88% heterozygosity rate). Y chromosome PCR analysis was carried out if a pattern indicative of TS was obtained. Leukocyte DNA analysis produced an abnormal restriction pattern for 20 of the 375 cases (5.3%). There was a single hybridizing band in 13 cases, an allelic disproportion indicative of mosaicism in 6 cases, and 3 hybridizing bands in 1 case. One patient tested positive in the Y chromosome PCR analysis. Cytogenetic analysis showed 47 XXX trisomy in the patient with a 3-hybridizing-band pattern and confirmed the diagnosis of TS for 17 of the 19 suspected cases: 45 X: n = 7; 45 X/46 Xi(Xq): n = 4; 45 X/46 XX: n = 2; 46 Xi(Xq): n = 1; 45 X/46 Xr(X): n = 1; 45 X/46 XX/47 XXX: n = 1; 45 X/46 XY: n = 1. Cytogenetic analysis was normal (46 XX) for the 2 other patients. The TS phenotype is variable: dysmorphism is often missing or mild (particularly in cases of mosaicism), but growth is reduced in virtually all patients. Screening of 375 growth-retarded girls identified 18 cases of TS, of which 17 were diagnosed by molecular analysis. This incidence (4.8%) was significantly higher than the expected incidence in this population (0.8-1.6%: P < 0.001).

Delayed puberty is defined arbitrarily on the basis of statistical consideration, when no signs of puberty have occurred at 2.0 SD (13.4 years in girls and 13.8 in boys) above the mean chronological age for the onset of puberty. The vast majority of these patients have no endocrine abnormality and their pubertal development and growth spurt are simply consequences of primary delay (constitutional delay of growth and puberty (CDGP)) or secondary delay due to a chronic disease of childhood, such as asthma. However, a small proportion may have pathological causes of delayed puberty which must be careful identified as specific management may be required. Associated with delayed puberty, the growth spurt is always delayed which is why the condition is described as delayed growth and puberty. Short stature and lack of sexual development may lead to emotional and social difficulties and in some patients their consequences can persist when 'normal' height and full sexual maturation are attained. Recent data also suggest that a delay in the 'tempo' of pubertal maturation may interfere with the normal bone accretion occurring during puberty, later causing osteoporosis. Such findings suggest that a new approach in delayed puberty may be necessary not only for psychological reasons but also for optimizing bone mass accretion.

Members of the Child Growth Foundation were surveyed to ascertain how children's growth problems were diagnosed. For many (46%) it was the parents who first expressed a concern about the child's growth. Routine height monitoring detected only 8%. Parents consulted a doctor promptly when worried, but there were often delays between the first medical consultation and referral to a hospital consultant. Many parents reported that their concerns were not taken seriously.

Most children who are more than 2 SD below the mean in height (less than third percentile) have no definable cause and are considered short-normal, but for children who are 3 SD below the mean (the lowest 0.13%), the prevalence of organic disease is known to be considerably greater. To better define the frequency of different diagnoses in this subgroup and to identify useful clinical findings, we reviewed the charts of all children referred for growth evaluation over a 10-year period who were > or = -3 SD in height, > 2 years old, and prepubertal. Of 60 patients (36 males and 24 females), 22% had constitutional growth delay (CGD), 23% had growth hormone deficiency (GHD), 13% had Turner syndrome, and 22% had various forms of primary growth failure (mostly associated with intrauterine growth retardation). Eight percent had very slow growth over a prolonged period but no definable cause, and 12% did not fall into any of the above groups. For differentiating GHD from CGD, a subnormal height velocity for age during a 4- to 12-month observation period, a low insulin-like growth factor-1/somatomedin C (IGF-1/Sm-C), and low total or free T4, with normal TSH, were all highly predictive of a diagnosis of GHD.

Serial measurements of elementary-school children were conducted for 2 consecutive years to assess height and growth velocity and to determine the prevalence of growth hormone deficiency (GHD) in American children. Trained volunteers measured 114,881 children the first year; 79,495 growth rates were calculated after the second measurements. The height and growth velocity curves generated were very similar to the currently used charts. We examined 555 children with short stature (< 3rd percentile) and poor growth rates (< 5 cm/yr). Five percent had an endocrine disorder. The presence of GHD (peak level, < 10 ng/dl with two provocative tests) was found in 16 previously unrecognized children; 17 children from this school population were already known to have GHD. Boys outnumbered girls 2.7:1 (p = 0.006). Six girls with Turner syndrome also were identified. We conclude that (1) the growth curves generated in the 1960s and 1970s are valid for children of the 1990s; (2) most children growing < 5 cm/yr (a commonly used threshold rate) will not have an endocrine disorder; (3) many children (48% in this study) with GHD and others with Turner syndrome may currently be unrecognized and untreated; (4) GHD appears to be more common in boys; and (5) the prevalence of GHD in the United States is at least 1:3480.

Graves' disease in a girl with Turner's syndrome (karyotype 46,Xdel(Xp)) is described. Hyperthyroidism led to a pronounced acceleration of height velocity. During treatment with methimazole and L-thyroxine, height velocity normalized. The patient also developed spontaneous puberty with a clear-cut pubertal growth spurt. Final height, however, did not appear to be influenced either by Graves' disease or by spontaneous puberty.

In growth-retarded girls, shortness may be the only clinical sign of Turner syndrome. Therefore recommendations have been published that a chromosomal analysis should be carried out in every girl showing growth retardation. The present study was carried out to examine whether the head circumference of small girls can serve as a criterion and hence limit the need for expensive chromosomal analysis. The head circumferences of 45 girls with Turner syndrome were compared with those of 41 growth-retarded girls. It could be shown that the heads of the patients with Turner syndrome had a normal circumference, whereas the heads of the control group were significantly smaller. In view of this result, the risk of overlooking Turner syndrome in diagnosing growth retardation without a chromosomal analysis could be estimated to be 1:9000. The conclusion is drawn that a chromosomal analysis is not necessary in girls whose growth retardation is combined with a small head circumference and who do not show other malformations.

The clinician often encounters girls with varying combinations of short stature and subtle dysmorphic features that are compatible with either Turner or Noonan syndrome. A classic case of either syndrome with extensive unmistakable traits is the exception rather than the rule. Six cases are presented to help describe some of the difficulties in differential diagnosis and provide strategies to avert them.

A 16 year-old girl with short stature and gonadal dysgenesis was found to have a chromosomal complement consisting of 46,X,dic(X) (qter yields p22::p22 yields qter). When comparing her clinical features with 7 other cases who appeared to have precisely the same abnormal dicentric X, it was found that even though the percent of 45,X cells present varied considerably from patient to patient, these patients were remarkably similar and the stigmata, of Turner's syndrome were minimal in this group as a whole.