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.

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 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

scholarly journals A Review of Recent Developments in Turner Syndrome Research

2021 ◽  
Vol 8 (11) ◽  
pp. 138
Author(s):  
Allen C. Huang ◽  
Susan B. Olson ◽  
Cheryl L. Maslen
Keyword(s):  
Turner Syndrome ◽  
Sex Chromosome ◽  
Heart Defects ◽  
Endocrine Disorders ◽  
Molecular Processes ◽  
Second Sex ◽  
Genome Wide ◽  
Recent Developments ◽  
Delayed Growth ◽  
Risk Categories

Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. The mechanisms that lead to these defects are not completely understood and are obscured by the significant variability of both karyotype and phenotype without consistent correlation between the two. This paper presents a review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations. With technological advancements in genetics, the molecular processes of Turner syndrome have begun to be dissected. Certain genes on the X chromosome that typically escape inactivation have been implicated in both specific manifestations and broader risk categories. Recently identified genome-wide epigenetic changes may help explain the variability in presentation. It remains unclear as to how the combination of these factors results in the overall clinical picture, but advances in genomic, genetic, epigenetic, and -omics technology hold promise for providing insights that will improve the medical management of individuals with Turner syndrome.

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 Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany

2019 ◽  
Vol 8 (11) ◽  
pp. 1483-1492
Author(s):  
Elin Kahlert ◽  
Martina Blaschke ◽  
Knut Brockmann ◽  
Clemens Freiberg ◽  
Onno E Janssen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Medical Management ◽  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Cardiovascular Disorder ◽  
Adult Care ◽  
Multicenter Observational Study ◽  
Healthcare Data ◽  
Second Sex ◽  
Wide Range

Objective Turner syndrome (TS) is characterized by the complete or partial loss of the second sex chromosome and associated with a wide range of clinical manifestations. We aimed to assess the medical care of adult patients with TS in Germany. Design Retrospective multicenter observational study. Methods Data were collected from medical records of 258 women with TS treated between 2001 and 2017 in five non-university endocrinologic centers in Germany. Results Mean age was 29.8 ± 11.6 years, mean height 152 ± 7.7 cm, and mean BMI 26.6 ± 6.3 kg/m2. The karyotype was known in 50% of patients. Information on cholesterol state, liver enzymes, and thyroid status was available in 81–98% of women with TS; autoimmune thyroiditis was diagnosed in 37%. Echocardiography was performed in 42% and cardiac MRI in 8.5%, resulting in a diagnosis of cardiovascular disorder in 28%. Data on growth hormone therapy were available for 40 patients (15%) and data concerning menarche in 157 patients (61%). Conclusion In 258 women with TS, retrospective analysis of healthcare data indicated that medical management was focused on endocrine manifestations. Further significant clinical features including cardiovascular disease, renal malformation, liver involvement, autoimmune diseases, hearing loss, and osteoporosis were only marginally if at all considered. Based on this evaluation and in accordance with recent guidelines, we compiled a documentation form facilitating the transition from pediatric to adult care and further medical management of TS patients. The foundation of Turner Centers in March 2019 will improve the treatment of TS women in Germany.

Unusual association: turner syndrome and anterior pituitary insufficiency in 6 cases

2018 ◽  
Author(s):  
Wajdi Safi ◽  
Faten Hadj Kacem ◽  
Mariem Moalla ◽  
Dorra Ghorbel ◽  
Fatma Mnif ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Anterior Pituitary ◽  
Pituitary Insufficiency ◽  
Unusual Association ◽  
Anterior Pituitary Insufficiency

scholarly journals X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

Endocrinology ◽  
2013 ◽  
Vol 154 (3) ◽  
pp. 1092-1104 ◽  
Author(s):  
Xuqi Chen ◽  
Rebecca McClusky ◽  
Yuichiro Itoh ◽  
Karen Reue ◽  
Arthur P. Arnold
Keyword(s):  
Body Weight ◽  
Y Chromosome ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Gonadal Hormones ◽  
Xy Model ◽  
Second Sex ◽  
Metabolic Variables ◽  
Novel Model

Abstract Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) “four core genotypes” mice, comprising XX and XY gonadal males, and XX and XY gonadal females; 2) the XY* model comprising groups similar to XO, XX, XY, and XXY; and 3) a novel model comprising 6 groups having XO, XX, and XY chromosomes with either testes or ovaries. In gonadally intact mice, gonadal males were heavier than gonadal females, but sex chromosome complement also influenced weight. The male/female difference was abolished by adult gonadectomy, after which mice with 2 sex chromosomes (XX or XY) had greater body weight and percentage of body fat than mice with 1 X chromosome. A second sex chromosome of either type, X or Y, had similar effects, indicating that the 2 sex chromosomes each possess factors that influence body weight and composition in the MF1 genetic background. Sex chromosome complement also influenced metabolic variables such as food intake and glucose tolerance. The results reveal a role for the Y chromosome in metabolism independent of testes and gonadal hormones and point to a small number of X–Y gene pairs with similar coding sequences as candidates for causing these effects.

scholarly journals Regional Cerebral Glucose Metabolism in Turner Syndrome

1990 ◽  
Vol 17 (2) ◽  
pp. 140-144 ◽  
Author(s):  
C. Clark ◽  
H. Klonoff ◽  
M. Hayden
Keyword(s):  
Glucose Metabolism ◽  
Turner Syndrome ◽  
Parietal Cortex ◽  
Sex Chromosome ◽  
Occipital Cortex ◽  
Cerebral Glucose Metabolism ◽  
Brain Maturation ◽  
Visual Spatial ◽  
Primary Sensory Cortex ◽  
Regional Cerebral Glucose Metabolism

ABSTRACT:Regional cerebral glucose metabolism was examined in females with Turner syndrome, a sex chromosome abnormality. Previous studies have found a visual/spatial cognitive anomaly in these women but, to date, no abnormalities in brain structure or function have been associated with the condition. In the present study, decreases in regional metabolism were found in the occipital and parietal cortex. The involvement of the occipital cortex, although consistent with the observed cognitive anomalies, has not been suggested previously as an area dysfunction. Because the occipital cortex is a primary sensory cortex, the reduction of glucose metabolism in the parietal cortex may reflect a lack of innervation from the occipital cortex. Besides insight into the functional specialization of the brain, these findings are also consistent with previous reports on animals regarding the effects of estrogen in brain maturation.

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