scholarly journals Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

2016 ◽  
Vol 73 (10) ◽  
pp. 961-966
Author(s):  
Tamara Dragovic ◽  
Zorana Djuran ◽  
Svetlana Jelic ◽  
Dejan Marinkovic ◽  
Sasa Kikovic ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Genetic Disorder ◽  
Clinical Signs ◽  
Growth Failure ◽  
Delayed Puberty ◽  
Clinical Feature ◽  
Facial Dysmorphism ◽  
Primary Amenorrhea ◽  
Growth Plates ◽  
Gh Secretion

Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

scholarly journals 0897 Sleep Disordered Breathing In Pediatric Patients With Turner Syndrome

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A341-A342
Author(s):  
Y A Yu ◽  
B V Vaughn
Keyword(s):  
Sleep Apnea ◽  
Turner Syndrome ◽  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Genetic Disorder ◽  
Case Series ◽  
Growth Failure ◽  
Retrospective Chart Review ◽  
Upper Airway Resistance Syndrome ◽  
Disordered Breathing

Abstract Introduction Turner syndrome (TS) is a common genetic disorder that affects phenotypic females with partial or complete absence of one X chromosome. It typically presents with characteristic facial appearance, neck webbing, lymphedema, linear growth failure, and ovarian insufficiency. TS is also associated with other disorders, though sleep related disorders are not commonly reported. We present a case series of pediatric patients diagnosed with TS and assess their risk for sleep disordered breathing. Methods This study utilized retrospective chart review of the electronic medical record at the University of North Carolina at Chapel Hill from April 2014 to January 2019. Only pediatric patients under the age of 18 years who had previously undergone polysomnography and carrying the diagnosis of Turner syndrome were included in this study. Polysomnography results were reviewed. Results Retrospective chart analysis yielded ten (10) patients who qualified for inclusion. The mean age was 8.3 years (age range 1-15 years). Nine (9) patients were found to have sleep disordered breathing ranging from upper airway resistance syndrome to moderate sleep apnea (AHI range 1.2 to 6.2). Six (6) patients were found to have elevated periodic limb movement indices (PLM index range 5.1 to 30). Parasomnias and hypoventilation were not seen. Conclusion Our case series illustrates that sleep disordered breathing may be more common in TS than previously realized. Eklund et al. found that females with TS had more retrognathic mandibles and maxillas, shorter mandibles, and larger cranial base angles. These findings may indicate elevated risk of sleep apnea. Further studies are needed to define the overall risk of sleep disordered breathing in TS. Support None.

scholarly journals A Rare Variant of Turner Syndrome With Isodicentric X Chromosome Resulting in Trisomy: A Case Report

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A695-A696
Author(s):  
Jacqueline T Chan ◽  
Ma Cristine C Cabanas
Keyword(s):  
Short Stature ◽  
Cell Line ◽  
Turner Syndrome ◽  
Cell Lines ◽  
X Chromosome ◽  
Tissue Transglutaminase ◽  
Genetic Disorder ◽  
Delayed Puberty ◽  
Thyroid Peroxidase ◽  
Abnormal Cell

Abstract Introduction: Turner syndrome is a genetic disorder caused by the loss of an X-chromosome affecting approximately 1 in every 2,500 females. A constitutional karyotype of 45, X accounts for nearly 50% of patients, while mosaicism and other chromosomal structural abnormalities such as deletions, duplications, ring, isodicentric chromosomes, inversions and translocations, have been reported. Isodicentric X chromosomes are formed presumably by end-to-end fusion of chromatids after a break, with subsequent loss of an acentric fragment. These chromosomes in general have phenotypes characteristic of the resultant X deletions. We present a case of a 14-year-old female diagnosed with Turner syndrome and with 2 abnormal cell lines. Case Presentation: This is a case of a 14-year-old female referred to pediatric endocrinology for concerns of short stature and delayed puberty. She denied any food intolerance, bloating and diarrhea. She is otherwise healthy with unremarkable past medical history. Her weight was normal at 15th percentile. Her height was 137cm or 0.01 percentile with a Z score of –3.6. Work up revealed hypothyroidism with TSH 16.3 mcIU/mL (0.4-4.7 mcIU/mL), positive thyroid peroxidase antibody >900 IU/ml and thyroglobulin antibody 14 IU/mL (< 1.8IUm/mL) and celiac disease (tissue transglutaminase IgA > 100 U/mL) both without associated symptoms. Estradiol level was undetectable, and LH and FSH were 9.89 mIU/ml and 52.69 mIU/ml respectively. The rest of her labs including growth factors were normal. Bone age was normal at 13 years for chronological age of 14 years old. Chromosomal microarray revealed 2 abnormal cell lines: one with monosomy X, the other with a normal X chromosome and an isodicentric X chromosome involving the Xp11.22-q28 region resulting in trisomy of the latter cell line. Levothyroxine was started. Plan is to start growth hormone therapy and initiate puberty after. Patient referred to necessary subspecialties for hearing evaluation as well as cardiac evaluation Conclusion Turner syndrome usually presents as females with short stature, gonadal dysgenesis and 45,X cell line that is either singly or in combination with another mosaic cell line. Our patient presented with short stature and absence of puberty. Initial investigation revealed hypothyroidism and highly positive celiac antibodies, but unable to attribute her short stature to both diagnoses given the lack of other symptoms. This case emphasizes the importance of checking the karyotype in females presenting with short stature and more importantly delayed puberty as part of the diagnostic algorithm. In addition, checking thyroid and celiac panel are also imperative as treatment of these are treatable etiologies of short stature.

scholarly journals NEGLECTED TURNER SYNDROME IN A SHORT STATURED ADOLESCENT: CASE REPORT

1970 ◽  
Vol 9 (4) ◽  
pp. 413-415
Author(s):  
Oluwayemi I.O*,Odeyemi A.O, Ayeni T.O
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Clinical Signs ◽  
Tanner Stage ◽  
Optimal Growth ◽  
Delayed Puberty ◽  
Hands And Feet ◽  
Almost All ◽  
Stage 1

Turner syndrome, a chromosomal anomaly with loss of all or part of one sex chromosome,has an incidence of 1/ 2500 female live births. Clinical signs like lymphoedema duringinfancy, or short stature and delayed puberty are common reasons to screen for Turnersyndrome. Ovarian failure occurs in almost all affected females. We present a 15 yearold girl who presented with short stature and delayed puberty. Her mother rememberedshe noticed swelling of both hands and feet during infancy but made no meaning of it.Patient’s weight and height were below the 3rd percentile and had no secondary sexualcharacteristics at presentation. Patient’s karyotype (45, XO) confirmed the diagnosis.She had low serum estradiol, small uterus and atretic ovaries. Puberty was stimulatedwith Primarin for 2 years during which she gained 3kg in weight, 4cm in height andbreast development from Tanner stage 1 to 4. Clinicians need to look out for commonclinical signs of Turner syndrome for early diagnosis, referral and management ofaffected children for optimal growth and development.Key words: Turner syndrome–adolescent–neglected–short stature

111 Burn Sepsis Screening Tool to Facilitate Diagnosis of Burn Sepsis

2021 ◽  
Vol 42 (Supplement_1) ◽  
pp. S74-S75
Author(s):  
Kaitlyn Libraro ◽  
Palmer Bessey ◽  
Jamie Heffernan ◽  
James Gallagher
Keyword(s):  
Critically Ill ◽  
Screening Tool ◽  
Burn Injury ◽  
Clinical Signs ◽  
Case Fatality ◽  
Inhalation Injury ◽  
Clinical Feature ◽  
Sepsis Diagnosis ◽  
Acute Decompensation ◽  
Sepsis Screening

Abstract Introduction Sepsis following critical burn injury is an ominous development that can lead to death. Most patients will manifest a systemic inflammatory response syndrome (SIRS), even without being septic. This may obscure the clinical recognition of developing sepsis and delay the initiation of effective treatment. We developed a burn sepsis screening tool (BSST) to facilitate the recognition of developing burn sepsis. The purpose of this study was to review the utility of that tool. Methods The BSST was based on several clinical signs, laboratory values, and changes in physiologic support modalities associated with sepsis. It consisted of nine parameters that could be scored as indicating or not indicating sepsis or not applicable. If three were positive, the patient was identified as septic, and a search for a septic source was undertaken and treatment initiated. The BSST was completed on patients judged to be critically ill during morning rounds over a period of nine months. The values were transcribed into a secure web database and analyzed using SAS 9.4. Results There were 593 individual encounters on 31 critically ill patients with burns and/or inhalation injury for which the BSST was completed. The mean age of the patients was 57 ± 4 years (Mean ± SEM), and the burn size was 24 ± 15 % TBSA. Eleven patients were women (36%) and 7 patients had inhalation injury (23%). The expected case fatality was 21 - 30% depending on the statistical model used. Six patients (19%) died. The length of stay was 64 ± 10 days and ranged from 3 to 267 days. A patient was judged to be septic in only 45 of the daily encounters (8.0 % ± 1.1). There were 21 instances of a new septic event made in 12 patients. Episode of sepsis separated by at least 5 days of no sepsis, were considered to be a new septic event. There was a substantial amount of data that was missing or not applicable. There were no significant differences in the septic parameters on days with new sepsis diagnosis when compared to the day prior, or compared to all encounters in patients that were never septic. Patients deteriorated acutely between BSST completions on only two occasions and both were stabilized. Conclusions The BSST was used consistently to help evaluate the daily status of critically ill burn injured patients. The expected case fatality of the group was moderately high, based on statistical models derived from the ABA Burn Registry. The observed outcome was as good as or better than predicted. Acute decompensation was rare. The BSST added daily administrative work to rounds, and the data recorded were often incomplete. Although the BSST did not demonstrate any single clinical feature that identified the transition from SIRS to sepsis, it did add structure and rigor to daily rounds. That contributed to the effectiveness of rounds, and it may have been responsible, in part, for the favorable outcomes.

Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies

2019 ◽  
Vol 35 (11) ◽  
pp. 1853-1861 ◽  
Author(s):  
Miriam Zacchia ◽  
Emanuela Marchese ◽  
Elena Martina Trani ◽  
Marianna Caterino ◽  
Giovanna Capolongo ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Clinical Signs ◽  
Research Area ◽  
Clinical Proteomics ◽  
Clinical Feature ◽  
Physiological Importance ◽  
Non Invasive ◽  
Human Disorders ◽  
Autosomal Dominant Polycystic Kidney

Abstract The primary cilium (PC) was considered as a vestigial organelle with no significant physiological importance, until the discovery that PC perturbation disturbs several signalling pathways and results in the dysfunction of a variety of organs. Genetic studies have demonstrated that mutations affecting PC proteins or its anchoring structure, the basal body, underlie a class of human disorders (known as ciliopathies) characterized by a constellation of clinical signs. Further investigations have demonstrated that the PC is involved in a broad range of biological processes, in both developing and mature tissues. Kidney disease is a common clinical feature of cilia disorders, supporting the hypothesis of a crucial role of the PC in kidney homoeostasis. Clinical proteomics and metabolomics are an expanding research area. Interestingly, the application of these methodologies to the analysis of urine, a biological sample that can be collected in a non-invasive fashion and possibly in large amounts, makes these studies feasible also in patients. The present article describes the most recent proteomic and metabolomic studies exploring kidney dysfunction in the setting of ciliopathies, showing the potential of these methodologies in the elucidation of disease pathophysiology and in the discovery of biomarkers.

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

Body image, self-perception and satisfaction among girls with Turner syndrome-A prospective cross-sectional study

2021 ◽  
Author(s):  
Nandini Vijayakanthi ◽  
David J Marcus ◽  
Sobha P Fritz ◽  
Yijin Xiang ◽  
Doris Fadoju
Keyword(s):  
Body Image ◽  
Turner Syndrome ◽  
Normal Population ◽  
Cross Sectional Study ◽  
Delayed Puberty ◽  
Self Perception ◽  
Satisfaction Scale ◽  
Cross Sectional ◽  
Population Norms ◽  
Final Adult Height

Abstract Objectives Delayed puberty & short stature in girls with Turner syndrome(TS) can lead to low body image, self-esteem & satisfaction. We aimed to evaluate body image, self-perception, and satisfaction among girls with TS using Multi-Dimensional Body Image Self Relations Questionnaire -Appearance Scale (MBSRQ-AS). Methods Patients with karyotype-proven diagnosis of TS between 15-21 years were included after they achieved final adult height. We used MBSRQ-AS instrument with 5 sub-scales: Appearance Evaluation(AE), Appearance Orientation(AO), Body Areas Satisfaction Scale(BASS), Overweight Preoccupation(OWP) and Self Classified Weight(SCW) sub-scales. Mean scores were compared to available sex matched population norms & compared between different sub-cohorts. Results Of 59 eligible girls, 37 girls agreed to participate with mean age : 17.35 ±1.6 years. Turner girls had significantly lower scores compared to sex-matched population norms in AO [mean(SD): 3.32(0.42) vs 3.91(0.6)]; (p<0.001) and SCW [mean(SD): 3.26(0.71) vs 3.57(0.73); (p=0.01)] sub-scales. In contrast, they had slightly higher scores in BASS [ mean(SD): 3.38(0.74) vs 3.23(0.74); (p=0.23)] & OWP [mean(SD): 3.12(0.39) vs 3.03(0.96); (p=0.21)] sub-scales though not statistically significant. Girls with classic 45 X karyotype and those who were overweight/obese had lower scores in AE & AO sub-scales compared to normal population (p<0.05). Conclusion Compared to sex-matched population norms, Turner girls are not reporting negative effects due to their appearance & report general satisfaction with most areas of their body; however, Turner girls with classic karyotype or who were obese/overweight were generally unhappy with their physical appearance. They also seem to not focus their attention on their appearance.

scholarly journals A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations

2015 ◽  
Vol 37 (2) ◽  
Author(s):  
Savina Mannarino ◽  
Eitan Keizman ◽  
Michele Pasotti ◽  
Alessia Claudia Codazzi ◽  
Elisabetta De Sando ◽  
...  
Keyword(s):  
Aortic Coarctation ◽  
Genetic Disorder ◽  
Pulmonary Stenosis ◽  
Rare Event ◽  
Facial Dysmorphism ◽  
Gene Deletions ◽  
Genetic Syndrome ◽  
Surgical Interventions ◽  
Elastin Gene

Williams-Beuren syndrome (WBS) is a genetic disorder caused by elastin gene deletions, and is characterized by cardiovascular malformations, primarily including supravalvular aortic stenosis and peripheral pulmonary stenosis. We report a case of a neonate who developed severe discrete aortic coarctation, underwent multiple surgical interventions, and was subsequently diagnosed with WBS. Severe discrete aortic coarctation is a rare event in WBS newborns. An abnormally thick aortic wall is present in these patients and is the basis of the failure of the classical approach towards coarctation repair, which consists of end-to-end anastomosis as first surgical choice. Our case, and a very few similar previously documented cases, have all demonstrated recoarctation, which only aortic patch implantation was able to successfully repair. In light of this, we would also like to underline the importance of early WBS diagnosis. Therefore, even in mild syndromic phenotype such as low birth weight or facial dysmorphism that raise the suspicion of a genetic syndrome, it is advisable to perform fluorescent <em>in situ</em> hybridization analysis rather than merely karyotypic one.

scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

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