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

scholarly journals Concurrent Van der Woude syndrome and Turner syndrome: A case report

2017 ◽  
Vol 5 ◽  
pp. 2050313X1668791 ◽  
Author(s):  
Evan Los ◽  
Hayley Baines ◽  
Ines Guttmann-Bauman
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Delayed Diagnosis ◽  
Chromosome 1 ◽  
Pituitary Insufficiency ◽  
Van Der Woude Syndrome ◽  
Unique Case ◽  
Second Sex ◽  
Interferon Regulatory Factor 6

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

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.

Health Supervision for Children With Turner Syndrome

PEDIATRICS ◽  
1995 ◽  
Vol 96 (6) ◽  
pp. 1166-1173
Author(s):  
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Sex Chromosome ◽  
First Trimester ◽  
Clinical Findings ◽  
Chromosome Constitution ◽  
Birth Prevalence ◽  
Frequent Use ◽  
Wide Range

This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotype. Although the pediatrician's first contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Turner syndrome will be referred for advice. Therefore, these guidelines offer advice for this situation as well. Turner syndrome, as used here, refers to a condition in which there is short stature and ovarian dysgenesis in females because of the absence of a normal second sex chromosome. Nonchrornosomal gonadal dysgenesis is excluded. The birth prevalence of Turner syndrome has been estimated to be from 1:2000 to 1:5000 female live births. About 1% to 2% of all conceptuses have a 45,X chromosome constitution. Of these, the majority (99%) spontaneously abort, usually during the first trimester of pregnancy. With the more frequent use of ultrasound, it is recognized that some pregnancies with a fetal 45,X chromosome constitution progressing into the second trimester are associated with nuchal cysts, severe lymphedema, or hydrops fetalis. These pregnancies are associated with a high frequency of fetal death. PHENOTYPE Pediatricians are most familiar with the clinical findings that prompt the diagnosis in children, namely, short stature and the classic Turner syndrome features such as lymphederna, webbed neck, low posterior hair line, and cubitus valgus. A wide range of clinical abnormalities may be found (Table 1). Turner syndrome, however, is not always accompanied by distinctive features and most often is not diagnosed in infancy.

scholarly journals Tactile Sensitivity of Women with Turner Syndrome

2019 ◽  
Vol 16 (20) ◽  
pp. 3870
Author(s):  
Julia Jajor ◽  
Anna Kostiukow ◽  
Włodzimierz Samborski ◽  
Elżbieta Rostkowska ◽  
Aleksandra Śliwa ◽  
...  
Keyword(s):  
Healthy Volunteers ◽  
Short Stature ◽  
Turner Syndrome ◽  
Anthropometric Measurements ◽  
Sensitivity Threshold ◽  
Tactile Sensitivity ◽  
Healthy Women ◽  
Hands And Feet ◽  
Study Participants ◽  
Skinfold Caliper

Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.

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 Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

2017 ◽  
Vol 63 (3) ◽  
pp. 155-158 ◽  
Author(s):  
Anna David ◽  
Imre Zoltán Kun ◽  
Gábor Nyírő ◽  
Zsuzsánna Szántó ◽  
Attila Patócs
Keyword(s):  
Short Stature ◽  
Tanner Stage ◽  
Thyroid Stimulating Hormone ◽  
Idiopathic Short Stature ◽  
Breast Development ◽  
Heterozygous Deletion ◽  
Shox Gene ◽  
Sitting Height ◽  
History Of ◽  
Stage 1

AbstractIntroduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.Case presentation: We present the history of an 11-year-old female patient diagnosed with idiopathic short stature. Clinically, she was moderately disproportionate, with cubitus valgus and palatum ogivale. Her breast development was in Tanner stage 1 at the time of diagnosis. The endocrine diagnostic tests did not reveal any abnormalities except a slightly elevated thyroid stimulating hormone. We have also assessed the bone radiological findings. Multiplex Ligation-dependent Probe Amplification technique used for the identification of SHOX gene haploinsufficiency showed a heterozygous deletion spanning exons 4-5 of SHOX gene.Conclusions: This case is determined by deletions in exons 4-5 of SHOX gene and indicates the necessity of screening for SHOX deletions in patients diagnosed with idiopathic short stature, especially in children having increased sitting height-to-height ratio or decreased extremities-to-trunk ratio.

scholarly journals Late Presentation of Turner Syndrome and Its Complications

2018 ◽  
Vol 3 (2) ◽  
pp. 51
Author(s):  
Huzairi Sani ◽  
Nada Syazana Zulkufli
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Late Presentation ◽  
Chromosome Abnormalities ◽  
Primary Amenorrhoea ◽  
True Prevalence ◽  
Sex Chromosome Abnormalities

Turner syndrome is one of the most common sex chromosome abnormalities with an estimated true prevalence of 1 in 2,000 in newborns. This case report is of a girl who presented to the adult endocrinologist at 16 years of age and subsequently diagnosed with Turner syndrome. Despite frequenting clinics for unrelated ailments, her short stature was overlooked hence not investigated for a causative pathology. The aim of this report is to explore the diagnostics of Turner syndrome, hormone treatments available and the importance of starting treatment early. KEYWORDS: Turner syndrome, short stature, primary amenorrhoea, osteoporosis

Abstract 18091: Growth and Puberty in Fontan Survivors (GAPS study): A Multicenter Cross-sectional Study

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Shaji C Menon ◽  
Angela P Presson ◽  
Brian McCrindle ◽  
David J Goldberg ◽  
Ritu Sachdeva ◽  
...  
Keyword(s):  
Short Stature ◽  
Normative Data ◽  
Normal Population ◽  
Tanner Stage ◽  
Cross Sectional Study ◽  
Anthropometric Measurements ◽  
Delayed Puberty ◽  
Sectional Study ◽  
Cross Sectional ◽  
Fontan Patients

Introduction: Chronic diseases may result in growth impairment and delayed puberty that contribute to psychosocial maladjustment. There are no data on the prevalence of short stature or delayed puberty in children and adolescents after Fontan operation, a cohort characterized by chronic low cardiac output. Methods: This was a cross-sectional study of 299 Fontan patients (8-18 years) from 11 Pediatric Heart Network centers. We collected demographic data, anthropometric measurements and Tanner stage using a validated self-assessment questionnaire. Anthropometric measurements and pubertal stage were compared to United States normative data. Short stature was defined as height <5% and abnormal BMI as <5% or >95%. Delayed puberty was defined as failure to reach a stage of development at an age greater than the median age in the subsequent Tanner stage. Comparisons were made between study population and contemporary normal population data. Results: Of the 299 subjects [42% female, median age at enrollment 13.9 years (IQR: 11.3, 16.1)], 98 (33%) had hypoplastic left ventricle and 24 (8%) had heterotaxy syndrome. Median age at Fontan was 3 years (IQR: 2, 4). PLE was present in 16 subjects (5%). Fontan survivors had a higher prevalence of short stature relative to normative data (20% vs. 5%, p<0.0001) and an increased prevalence of abnormal BMI (18% vs. 10%, p<0.0001). Abnormal BMI were split between low BMI (43%) and high BMI (57%). Both males (58%) and females (58%) had delay in ≥1 Tanner stage parameter with at least 2 yr differences between Fontan patients and population norms for most parameters (Figure). Conclusion: Compared to the normal population, Fontan survivors have a 4-fold increase in the prevalence of short stature and nearly 2 fold abnormality in in BMI. Delayed puberty was common in both genders. As these factors may have a negative psychosocial impact, routine screening and management of short stature and delayed puberty should be a priority in Fontan survivors.

scholarly journals CASE REPORTON TURNERS SYNDROME IN NORTH KARNATAKA

2017 ◽  
Vol 10 (4) ◽  
pp. 3
Author(s):  
G S Kadakol ◽  
Gavishiddappa Hadimani ◽  
Shankar V Patil ◽  
Rudragouda S Bulagouda
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Clinical Features ◽  
Gonadal Dysgenesis ◽  
Chromosome Analysis ◽  
Pubic Hair ◽  
Neck Swelling ◽  
Cytogenetic Investigation ◽  
Hands And Feet

Turner syndrome (TS) is a common chromosomaldisorder. Turner syndrome (TS) also known as Ulrich–Turner syndrome, gonadal dysgenesis and 45, X, is a condition in which a female is partly or completely missing an X chromosome.The main clinical features of TS are Swollen hands and feet,Wide and webbed neck, a combination of the following symptoms may be seen in older females:Absent or incomplete development at puberty, including sparse pubic hair and small breasts broad, flat chest shaped like a shield, drooping eyelids, Turner Syndrome frequently seen  in young infants.Our case of a 10-year-old girl has TS-specific clinical hallmarks,with the symptoms of short stature, wide barred shaped chest drooping eyelids. She visited our hospital because of her neck swelling, pain in on /off condition since one month. In our study we reported both clinically & cytogenetic investigation which shows a patient is suffering from Turner Syndrome. This type of Syndrome is very rare in this region.Keywords:Turner Syndrome,   Short Stature,Chromosome Analysis

Urinary gonadotropin measurements by enhanced luminometric assays (LIA) for the evaluation of pubertal development

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
And Demir ◽  
Adem Aydın ◽  
Atilla Büyükgebiz ◽  
Ulf-Håkan Stenman ◽  
Matti Hero
Keyword(s):  
Healthy Subjects ◽  
Reliable Method ◽  
Pubertal Development ◽  
High Sensitivity ◽  
Tanner Stage ◽  
Time Resolved ◽  
Stage 1 ◽  
Sensitive Detection Technique ◽  
Serum And Urine

Abstract Objectives Determination of LH in urine has proved to be a reliable method for evaluation of pubertal development. The human LH assay based on time-resolved immunofluorometric (IFMA) technology (AutoDELFIA, PerkinElmer, Wallac) has been found to be suitable for this purpose thanks to its high sensitivity but other assays have not been evaluated. We have analyzed our data obtained by another potentially sensitive detection technique, enhanced luminometric assay (LIA) with the objective of finding a viable alternative to IFMA since these may not be available in the future. Methods LIA was used to measure LH and FSH in serum and urine samples from 100 healthy subjects of each Tanner stage and both genders, whose pubertal development has been determined. Results Urinary gonodotropin concentrations measured by LIA correlated well with Tanner stage [(r=0.93 for girls, r=0.81 for boys; p<0.01 for LH) and (r=0.81 for girls, r=0.73 for boys; p<0.01 for FSH)]. LIA determinations revealed the increase in U-LH concentrations during the transition from Tanner stage 1–2 in both girls and boys (p<0.001), whereas U-FSH and S-LH were able to detect the increase from Tanner stage 1–2 only in boys or girls, respectively (both p<0.001). Conclusions Measurement of urinary gonadotropin concentrations by LIA may be useful for the evaluation of overall pubertal development and also in the detection of transition from prepuberty to puberty.

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