Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome.

Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II/1 and II/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS.

Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.

BACKGROUND: Y chromosome material stands as an independent risk determinant for the onset of gonadoblastoma (GB) and subsequent gonadal germ cell tumours in individuals with Turner syndrome (TS). However, the delayed and underestimated identification of Y chromosome material through karyotyping within primary care settings exacerbates the intricacies of managing these patients over the long term. METHODS: We present a case involving TS accompanied by Y chromosome material, wherein puberty delay and GB were identified during prophylactic gonadectomy. Subsequently, we delve into the literature to explore the GB-related malignancy risk in TS patients with Y chromosome material, the incidence of Y chromosome presence in TS patients using methodologies beyond routine chromosomal testing, and the diagnosis and treatment of puberty delay in TS patients, all based on our case. RESULTS: A spectrum of more sensitive molecular techniques, including polymerase chain reaction (PCR) and fluorescence in situ hybridisation, effectively augments the detection of Y chromosome material alongside karyotyping. In addition to gonadectomy, the implementation of appropriate oestrogen therapy and a holistic, multidisciplinary approach to care can enhance the quality of life, while mitigating the long-term morbidity and mortality risks for TS patients harbouring Y chromosome material. CONCLUSIONS: Beyond gonadectomy, adopting a multifaceted approach the Y chromosome material detection, prompt initiation of puberty, tailored oestrogen therapy, and coordinated multidisciplinary management significantly contributes to the comprehensive health oversight of TS patients with Y chromosome material.

Effect of Growth Hormone and Estrogen Replacement Therapy on Bone Mineral Density in Women with Turner Syndrome: A Meta-Analysis and Systematic Review.

Osteoporosis is a serious implication of Turner syndrome (TS). Common methods for the treatment of TS are growth hormone (GHT) and estrogen replacement therapy (ERT). We examined the relationship between the treatment of TS and bone mineral density (BMD) of the lumbar spine. The purpose of our study was to show the currency of BMD states among patients with TS for treatment with GHT and ERT. We searched databases for studies published from inception to April 2023. The articles were related to TS, osteoporosis, ERT, GHT, BMD and treatment patients with TS. We applied the selection criteria: lumbar spine values at L1-L4; dual-energy X-ray absorptiometry (DXA); treatment which was applied: one group of articles: ERT and two group of articles: GHT; results performed as means ± SD. In total, 79 articles were analyzed, of which 20 studies were included and 5 were considered for meta-analysis. The total number of women in the articles selected was 71. Based on the results of the meta-analysis, the effect of ERT on BMD demonstrated a significant increase in BMD (the standardized mean difference in the random model was 0.593 g/cm2, 95% CI: 0.0705 to 1.116; p = 0.026), which showed that treatment with estrogen particularly increases bone mass during treatment, which contributes to reducing the risk of fractures. The effect of GHT on BMD demonstrated a non-significant decrease in BMD in patients with TS. The results for growth hormone show that this therapy does not improve bone density. However, our review emphasizes the beneficial effect of supplementing growth hormone (GH) on the clinical presentation of TS.

Challenges Waiting for an Adult with DSD.

BACKGROUND: Disorders/differences of sex development (DSD) comprise a heterogeneous group of inborn conditions where the individual's sex chromosomes, gonads, and/or anatomical sex are discordant. Since the Chicago Consensus Conference in 2005, multidisciplinary care has been implemented in specialised paediatric tertiary care centres and clinical practice has substantially changed towards a more holistic approach. SUMMARY: Psychological support has become a key factor in the management of DSD. After paediatric care, one of the main challenges is the transition of patients to expert care in adulthood. Patients frequently experience difficulties in accessing specialised medical care in adulthood, resulting in loss to follow-up affecting the patients' physical and psychological health as well as quality of life. Clinical features and long-term outcomes are highly variable in most DSD conditions. Although medical care has improved, morbidity and mortality are increased in all conditions. A particular challenge in the care of DSD patients in adulthood is optimisation of fertility potential. Ideally, this is addressed already in adolescence and requires close interaction of not only paediatricians and adult endocrinologists but also urologists, andrologists or gynaecologists, and psychologists. KEY MESSAGES: This review addresses issues relating to transition of DSD care from the paediatric to adult care as well as health-related challenges in adulthood in DSD.

An Indonesian adolescent with Turner syndrome and ß-thalassemia in low-resource setting: A case report and literature review article.

Background: Turner syndrome and ß-thalassemia very rarely occur together in an individual. Case presentation: An Indonesian adolescent, 18 years old, complained is fatigue a week ago. She has a medical history of ß-thalassemia for age 6 months and Turner syndrome identification for age 16 years. Meanwhile, she regular consumes deferasirox 500 mg every day. Physical examination showed pale conjunctiva and pale face. Body view similar children aged 13 years old. Laboratories investigation values included Hb of 7.7 gr/dL, MCV of 79.5 fL, MCH of 25.9 pg, MCHC of 28.6%, WBC of 6780/mm3, PLT of 242,000/mm3, AST of 15 U/L, ALT of 20 U/L, Ferritin of 1692.32 ng/mL, growth hormone of 0.468 ng/mL, Estradiol of <11.80 pg/mL, luteinizing hormone of 53.50 mIU/mL, and follicle-stimulating hormone of 115.19 mIU/mL. Chromosomal analysis showed Turner syndrome. The patient received a packed red cell transfusion of up Hb of 10 gr/dL, deferasirox 500 mg daily, and a contraceptive tablet. Due to financial issue in Indonesia, patient with Turner syndrome does not get proper hormonal therapy such as growth hormone, vitamin D supplementation, and other hormone replacement therapy. Discussion: Turner syndrome and thalassemia in low-resource settings are challenges in themselves, so in their implementation, only thalassemia can be controlled, but for therapy, it does not show an improvement in prognosis. Conclusion: Turner syndrome and thalassemia both worsen the patient's condition.

Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data.

PURPOSE: In South Korea, investigations into Turner syndrome (TS) prevalence and TS-associated cancer and mortality are lacking. Accurate data were estimated from the National Health Insurance Service (NHIS) and the Rare Diseases Registry (RDR) records. MATERIALS AND METHODS: Data on patients with TS who were registered in the RDR between 2007 and 2017 were collected. To estimate TS-associated cancer and mortality risk, the data were compared with data of 1:3 age-matched controls. RESULTS: In 2017, 2054 patients with TS were identified from a total population of 26186952 South Korean women; therefore, the prevalence was 7.84 per 100000 persons. TS prevalence across 10-year interval age groups were 11.82, 23.17, 18.37, 10.49, 4.09, and 0.38 for age under 10 years, teenagers, 20s, 30s, 40s, and older than 50, respectively (per 100000 persons). The cancer risk in patients with TS was higher than that of age-matched controls over 5.3 person-years [hazard ratio (HR)=1.82, 95% confidence interval (CI) 1.01-3.27, p=0.045]. Among different types of cancer, thyroid cancer risk in patients with TS was significantly higher than that of age-matched controls (HR=2.78, 95% CI 1.06-7.26, p=0.037). We also observed that TS-associated all-cause mortality risk was higher than that of age-matched controls (HR=3.36, 95% CI 1.59-7.10, p=0.002). CONCLUSION: National prevalence of TS was suggested, and an increased risk of TS-associated thyroid cancer and mortality were observed in this study.

Uncovering Ankylosing Spondylitis from a Diagnosis of Parsonage-Turner Syndrome: A Case Report of Bilateral Shoulder Pain and Weakness.

Introduction: Parsonage-Turner syndrome is a rare condition that is often misdiagnosed by physicians due to the overlapping symptoms with other conditions such as rotator cuff injury and cervical radiculopathy. The etiology of the Parsonage-Turner syndrome is unknown, but has been associated with an immune-mediated response to rheumatic disease, infection, surgery, and immunizations. Case Presentation: A 18-year-old female former tennis player with a history of complex regional pain syndrome (CRPS), Ehler-Danlos syndrome (EDS), and two prior right shoulder surgeries presented to the orthopaedic clinic with bilateral shoulder pain. After a third surgery on the right shoulder, the patient later developed constant burning and sharp pain around the right shoulder that radiated toward the chest. She also experienced numbness, tingling, and weakness in the right shoulder along with pain and weakness in the left shoulder. The patient was tender over the right musculocutaneous nerve and both shoulders were inflamed on ultrasound. Electromyography (EMG) and nerve conduction studies were performed, which were consistent with a bilateral subacute on chronic brachial plexopathy, suggestive of Parsonage-Turner syndrome. Rheumatology was consulted due to an extensive family history of autoimmune diseases, leading to an additional diagnosis of ankylosing spondylitis. The patient's bilateral shoulder pain slowly improved over the following year with physical therapy and prolotherapy treatments. Conclusion: The case described, herein, represents a unique patient who presents with the rare conditions of ankylosing spondylitis, CRPS, EDS, and Parsonage-Turner syndrome. EMG was critical to differentiate Parsonage-Turner syndrome from the overlapping CRPS symptoms and without this, the diagnosis of ankylosing spondylitis may have been delayed. It is imperative physicians take a thorough history, include uncommon or rare conditions as a potential diagnosis, and undergo thorough testing while evaluating a patient to avoid unnecessary treatment therapies and patient dissatisfaction.

The Role of Positional Release Therapy in Treating Recalcitrant Brachial Plexus Neuritis: A Case Report.

A 17-year-old female soccer player presented with severe right shoulder pain and scapular winging due to brachial plexus neuritis. The patient was diagnosed with Parsonage-Turner syndrome, a rare condition often resistant to traditional physical therapy, which typically persists for 6 months to years, at times requiring surgical intervention. Over the course of 6 weeks, the patient received positional release therapy once a week coupled with electrical modalities, massage, and a daily home exercise program. This case report is unique because we believe we were the first to use positional release therapy for treatment and the patient's condition resolved more quickly than is typically reported.

Diet and Lifestyle Role in Homocysteine Metabolism in Turner Syndrome.

OBJECTIVE: Patients with Turner syndrome (TS) have an unfavorable cardiometabolic profile. Hyperhomocysteinemia is a potential cardiovascular risk factor influenced by genetic and environmental factors, therapies, unbalanced diets and other lifestyle factors. We retrospectively studied the relationship between total plasma homocysteine (Hcy), serum vitamin B12 (B12) and folate concentration in TS patients, taking into account the genetic profile, diet, smoking habits, hormonal therapies and dietary supplements of the subjects. PATIENTS AND METHODS: We evaluated 50 TS patients (31.5 ± 12.5 years). Medication, including vitamin supplementation, was obtained. Eating habits, cigarette smoking, alcohol and coffee consumption were investigated using phone interviews. Levels of Hcy metabolism parameters were classified by using the relevant cutoff value for an adult population and compared with a reference sample drawn from the general population. RESULTS: Inadequate Hcy and B12 levels were noted, despite vitamin supplementation. Holotranscobalamin (HoloTC) was above the relevant cutoff in the population, and supplemented subjects showed mean levels lower than nonsupplemented subjects (p = 0.005). Dietary supplementation (p = 0.038), lifestyle (coffee consumption, p = 0.01) and hormonal replacement therapy (p = 0.02) are important factors for Hcy metabolism. No genetic influence on Hcy levels was noted. Multivariable regression analysis identified vitamin supplementation (p = 0.045) as the only independent predictor of increased Hcy levels. CONCLUSION: Cardiovascular risk in TS can be reduced using educational approaches to a healthy lifestyle with dietary guidelines. Besides this, we also recommend measuring HoloTC for the prompt detection of B12 deficiency and to consider hormone replacement therapy in the biochemical assessment of homocysteine in TS.

Eldecalcitol increases bone mass in patients with Turner syndrome who have insufficient bone mass acquisition after estrogen replacement therapy.

Most patients with Turner syndrome (TS) exhibit amenorrhea due to premature ovarian failure. Therefore, estrogen replacement therapy (ERT) is required; however, even after undergoing ERT, it is not rare for bone mass acquisition to be insufficient. This study was conducted in two stages, involving a cross-sectional and a prospective interventional study. We recruited 52 TS patients undergoing ERT due to amenorrhea (categorized into low (LB group; n = 23), and normal (NB group; n = 29) bone mass groups) and 7 TS patients who maintained ovarian function (spontaneous menstrual cycle group (MC group)) as controls. We compared bone associated markers between the three groups (LB, NB, and MC). Furthermore, the LB group had concomitant treatment with eldecalcitol (ELD) and ERT for 12 months. The bone mineral density (BMD) of the lumber spine (L2-4) and the bone metabolism markers were then compared before and after the treatment. The bone metabolism markers were significantly higher in the LB group than the NB and MC groups. Furthermore, with the concomitant use of ELD and ERT in the LB group, BMD increased significantly (pre-treatment 0.710 ± 0.056 g/cm2 vs. 0.736 ± 0.062 g/cm2 after 12 months; p < 0.001). TS patients with insufficient bone mass acquisition even after ERT were characterized by a higher turnover in bone metabolism. Therefore, the concomitant use of ELD was considered an effective adjuvant therapy for increasing bone mass.

Chiropractic management of a geriatric patient with idiopathic neuralgic amyotrophy: a case report.

OBJECTIVE: The purpose of this paper is to describe chiropractic management of a patient with neuralgic amyotrophy (NA) and to provide discussion regarding presentation, differential diagnosis, management and prognosis of idiopathic NA. CASE PRESENTATION: An 85 year old Caucasian male presented to a chiropractic clinic with right periscapular and lateral rib cage pain. The patient had previously sought evaluation and treatment from multiple health care providers and underwent multiple interventions without relief. INTERVENTION AND OUTCOME: The patient was managed with a course of chiropractic care and an ongoing home exercise program was carried out. The patient reported spontaneous resolution of pain approximately 14 months post onset. SUMMARY: NA is a poorly known clinical entity amongst health care providers and poses challenges in timely and proper diagnosis. Recognition of NA is important for patients to be best managed and for more optimal patient outcomes to be achieved.

OBJECTIF: Ce document a pour objectif de décrire la prise en charge chiropratique d'un patient atteint d'amyotrophie névralgique (AN), ainsi que de discuter de la présentation, du diagnostic différentiel, de la prise en charge et du pronostic d'AN idiopathique. EXPOSÉ DE CAS: Un homme blanc de 85 ans se présente à une clinique de chiropratique en se plaignant de douleur périscapulaire droite et latérale à la cage thoracique. Le patient s'était déjà fait évalué et traité par nombre de fournisseurs de soins de santé et avait subi de nombreuses interventions, sans soulagement. INTERVENTION ET RÉSULTAT: Le patient a reçu des soins chiropratiques et on lui a créé un programme d'exercices à domicile. Le patient a déclaré une disparition spontanée de la douleur environ quatorze mois après l'apparition des symptômes. RÉSUMÉ: L'AN est une entité clinique mal connue des fournisseurs de soins de santé, ce qui complique le fait de parvenir à un diagnostic exact avec rapidité. Il est important de reconnaître l'AN pour assurer une prise en charge optimale des patients et obtenir des résultats optimaux.

Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition.

Studies about selenium status in patients with Turner syndrome (TS) are non-existent in the literature. The aim of this study was to evaluate selenium status in patients with TS, while considering the different ages of the studied population and the relation with body composition. In total, 33 patients with TS were evaluated and grouped according to their developmental stages (children, adolescents, and adults). Selenium concentrations in their plasma, erythrocytes, urine, and nails were determined by using hydride generation atomic absorption spectrometry and erythrocyte glutathione peroxidase activity were measured by using Randox commercial kits. Additionally, height, weight, body fat percentage, waist circumference, and waist-height ratio were measured to characterize the patients. No differences in the selenium concentrations in the plasma, erythrocyte, urine, and nails or in the glutathione peroxidase activity were observed among the age groups (p > 0.05). The evaluated selenium levels were less than the established normal ones. The patients with larger waist circumference, body fat percentage, body mass index, and waist-height ratio showed lower glutathione peroxidase enzyme activity (p = 0.023). The present study shows that most patients with TS are deficient in selenium and that those with a greater accumulation of body fat have a lower GPx activity.

Is there a role for estrogen activity assays? Recombinant cell bioassay for estrogen: Development and applications.

There are many questions which cannot be answered without a very sensitive estradiol assay. A recombinant cell bioassay (RCBA) for estradiol was developed in 1994. The sensitivity of the bioassay is 0.02-0.2 pg/ml (0.07-0.7 pmol/L), more than 20 times more sensitive than commercial RIAs and 10 times more sensitive than newer mass spectrometry assays. The RCBA for estradiol opened the door to study low levels of estradiol equivalents (EE) across the physiological spectrum of life from prepubertal children through menopause and across the spectrum from normal physiology, in boys as well as girls, to pathology, including: premature thelarche; estradiol suppression in children treated with GnRH analogues for precocious puberty; aromatase inhibition in boys with growth hormone deficiency; the differences between oral and transdermal routes of estrogen administration in girls with Turner's syndrome; women with breast cancer treated with aromatase inhibitors; and women with urogenital atrophy treated with low dose vaginal estrogen. A bioassay also allows study of endocrine disruptors, like phytoestrogens and other environmental compounds, which are relevant to public health and alternative medicine options. This paper reviews the assay and the last 20 years of applications. A bioassay for estrogen has a role because measuring biological effect is theoretically useful, increasing the understanding of physiology in addition to biochemical levels, giving different information than other assays, and opening the door to measure very low levels of estrogen activity in both humans and the environment.

Turner syndrome--issues to consider for transition to adulthood.

BACKGROUND: Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. AREAS OF AGREEMENT: The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. AREAS OF CONTROVERSY: Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. AREAS TIMELY FOR DEVELOPING RESEARCH: The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS.

Switching to Omnitrope(®) from Other Recombinant Human Growth Hormone Therapies: A Retrospective Study in an Integrated Healthcare System.

INTRODUCTION: This study was conducted using an integrated retrospective database to evaluate the effectiveness of Omnitrope(®) (Sandoz) on children with growth hormone deficiency (GHD), idiopathic short stature (ISS), and Turner Syndrome (TS) who switched from a non-Omnitrope recombinant human growth hormone (rhGH) preparation during routine clinical care. METHODS: This was a retrospective study which identified patients with GHD, ISS, and TS during the study time period of January 1, 2006 and July 31, 2011. Patients were included if they switched to Omnitrope from another non-Omnitrope rhGH therapy during the study time period, were <18 years of age at time of switch, and on a prior rhGH therapy for at least 15 months pre-switch and on Omnitrope for 15 months post-switch. Auxological parameters (height, height standard deviation score [HSDS], height velocity [HV], and height velocity standard deviation score [HVSDS]) were evaluated during post-switch. RESULTS: One hundred and three patients were identified: GHD (n = 57), ISS (n = 26), and TS (n = 20). There was continuous growth in height for all 103 patients with an average rate of 6.52 cm over the 15-month post-switch period. Patients with GHD grew an average rate of 6.30 cm, patients with ISS grew an average rate of 6.58 cm, and patients with TS grew an average rate of 6.52 cm over the 15-month post-switch period. The average rate of HSDS was increased by 0.04 for all patients. The HV and HVSDS demonstrated the expected decline with advancing age and prolonged duration of treatment. CONCLUSIONS: The growth trajectories of rhGH-treated patients were not negatively impacted by switching to Omnitrope and growth rates remained as expected prior to the switch.

Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

OBJECTIVE: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. CASE: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. CONCLUSIONS: This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

Turner syndrome with ulcerative colitis.

Turner syndrome is a chromosomal disease frequently associated with autoimmune disorders including diabetes mellitus, thyroid disease and inflammatory bowel disease (IBD). Although the etiology of IBD has not been fully elucidated, genetic analysis has recently revealed several susceptibility genes. Recently, cases with Turner syndrome associated with IBD have been reported. We report here a 13-yr-old girl with Turner syndrome associated with ulcerative colitis. The patient was undergoing growth hormone treatment and presented with abdominal discomfort and bloody diarrhea. Her karyotype pattern was 46,X,i(Xq). Barium enema revealed punctate collections of barium suggesting microulcerations in the descending and sigmoid colon with loss of haustra. Flexible sigmoidoscopy showed that the mucosa was erythematous and friable upon touch and that the wall had frank hemorrhage and inflammatory polyp formation from the anal verge through the splenic flexure. Histologically, mucosal and submucosal inflammation was prominent, suggesting cryptitis and crypt abscess formation. Based on these findings, she was diagnosed as having ulcerative colitis, and 5-aminosalicylic acid, prednisolone and dietary therapy were initiated. Our observations in this patient suggest that X chromosome abnormality may influence the development of IBD and that screening for gastrointestinal disease in patients with Turner syndrome may help lengthen life expectancy in these patients.

O hormônio de crescimento na síndrome de Turner: dados e reflexões: [revisão] / Growth hormone treatment inTurner syndrome: data and reflections: [review]

A baixa estatura é a principal característica na síndrome de Turner (ST). O agravo estatural na ST é precoce e torna-se mais evidente na puberdade. A haploinsuficiência do gene SHOX tem sido implicada como principal fator na definição da estatura de mulheres, no entanto, ainda que a maioria das pacientes não tenha deficiência do hormônio de crescimento, a terapia com GHr melhora a altura final. Recentemente, tem-se chamado a atenção para a associação entre GH e câncer. O risco de câncer nessas pacientes está associado à presença de fragmentos do cromossomo Y que pode levar ao desenvolvimento de gonadoblastoma. Dessa forma, a administração de GHr na ST deve ser feita com cautela. A investigação de seqüências do cromossomo Y deve ser realizada, bem como a gonadectomia profilática nos casos positivos, conferindo maior segurança ao tratamento.

Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsuficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.

Turner syndrome associated with ulcerative colitis.

UNLABELLED: We report the case of a 7-yr-old girl with Turner syndrome, ulcerative colitis (UC) and coarctation of the aorta. The diagnosis of Turner syndrome was made in early infancy (karyotype analysis 45, X). Growth hormone treatment was started at 3 yr and 2 mo of age. From the age of 4 yr and 5 mo, the patient suffered from persistent diarrhea with traces of blood and intermittent abdominal discomfort. As these symptoms gradually deteriorated, she was referred to our clinic at the age of 7 yr for further evaluation. Barium enema showed aphtha and loss of the fine network pattern in the descending colon and rectum. An endoscopic examination showed ulceration, edema, friability, and erythema beginning in the rectum and extending up to the splenic flexure of the descending colon. The histology of the descending colon area showed severe stromal infiltration of inflammatory cells. These endoscopic findings and the histological findings were consistent with UC. Thus, based on these findings, the patient was diagnosed as having UC. Mesalazine therapy was initiated at this time. The patient is currently being treated with mesalazine (1,000 mg/day) and abdominal symptoms and bloody diarrhea have disappeared. GH therapy was not interrupted during the therapy for UC. Retrospectively, growth hormone improved growth velocity (9 cm/year) during the first year of treatment, however from the age of 4 yr, growth velocity decreased (4-5 cm/yr) in spite of the GH treatment. CONCLUSION: Patients with Turner syndrome and gastrointestinal symptoms should be investigated for inflammatory bowel diseases. Growth velocity is useful for evaluating the presence of inflammatory bowel diseases and other systemic diseases.

Leptin Levels and Obesity in Childhood / 대한소아내분비학회지

PURPOSE: Leptin is a hormone involved in the regulation of energy balance. Serum leptin levels are correlated with body fat. It provide information to hypothalamus on the amount of energy stored in the adipose tissue. Certain endocrine disease presents obesity in childhood, such as growth hormone deficiency, Prader- Willi syndrome and Turner syndrome. The purpose of this study is to evaluate leptin levels in obese children and to know whether it is a useful marker to differentiate the underlying cause of obesity. METHODS: One hundred sixty six obese children were included in this study. Height, weight, HTSDS, WTSDS, adjusted WTSDS to height age and BMI were measured. Serum leptin levels were measured. RESULTS :Leptin levels in simple obesity, growth hormone deficiency, Prader-Willi syndrome, Turner syndrome and control were 12.3+/-6.3ng/ml, 6.4+/-2.0ng/ml, 19.9+/-11.2ng/ml, 8.9+/-5.3ng/ml, 5.7+/-3.7ng/ml respectively. Leptin levels were significantly high in obese children, especially in Prader-Willi syndrome, simple obesity and Turner syndrome. Leptin concentration were correlated with BMI and WTSDS. CONCLUSION: Leptin can be used as an indicator of obesity but, not suitable as a differential diagnostic factor for obesity.