Tall Stature
View article: Brachydactyly type A3 may be associated with shorter stature: An observation from a Chinese pediatric sample
Brachydactyly type A3 may be associated with shorter stature: An observation from a Chinese pediatric sample Open
Background Brachydactyly type A3 (BDA3), a common finger deformity, demonstrates an inverse epidemiological relationship with population height, suggesting a potential link with individual stature. We aimed to investigate the distribution …
View article: Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases
Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases Open
The purpose of this study is to elucidate the genetic causes and phenotypic presentation of nonfamilial tall stature (nFTS) and to compare these findings with those of familial tall stature (FTS) from the same population that was previousl…
View article: Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report
Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report Open
The syndrome, 48, XXYY is a rare sex chromosome aneuploidy in males. These individuals have unique clinical features such as male infertility, testicular agenesis, tall stature, gynaecomastia, tremors and variable phenotypes of neurodevelo…
View article: Moderate to Severe Short Stature and Joint Involvement in Individuals With <i>ACAN</i> Deletions
Moderate to Severe Short Stature and Joint Involvement in Individuals With <i>ACAN</i> Deletions Open
Objective In recent years, numerous heterozygous ACAN variants have been identified in individuals with short stature. The phenotypic spectrum includes mild to moderate short stature, advanced to delayed bone age, mild dysmorphic features,…
View article: Transforming tallness: how sex steroids influence final height in Marfan syndrome
Transforming tallness: how sex steroids influence final height in Marfan syndrome Open
Early intervention with low doses of steroids significantly reduced final height in individuals with tall stature, including those with MS, while also minimizing dose-dependent adverse effects.
View article: An Unusual Presentation of Costello Syndrome in a Boy with Precocious Puberty and Chiari I Malformation: A Case Report
An Unusual Presentation of Costello Syndrome in a Boy with Precocious Puberty and Chiari I Malformation: A Case Report Open
View article: Emotional and Behavioural Adjustment in Children and Adolescents with Short Stature vs. Their Normal-Statured Peers
Emotional and Behavioural Adjustment in Children and Adolescents with Short Stature vs. Their Normal-Statured Peers Open
Background/Objectives: the aim of the current cross-sectional study is to explore and compare the emotional and behavioural conditions of children and adolescents with short stature (i.e., familial short stature and constitutional delay of…
View article: A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum
A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum Open
Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by complex manifestations involving musculoskeletal, cardiovascular, and ocular systems. The usual presentation …
View article: How Tall Is the God of the Tabernacle and Solomon’s Temple? Computing Yahweh’s Stature
How Tall Is the God of the Tabernacle and Solomon’s Temple? Computing Yahweh’s Stature Open
View article: Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment
Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment Open
Purpose: Short stature is the main characteristic of Turner syndrome (TS) patients and growth hormone (GH) therapy has been essential for achieving the final adult height (Ht). In the present study, the response of TS patients with differe…
View article: Evaluation of Patients with Tall Stature Applying to a Pediatric Endocrinology Clinic
Evaluation of Patients with Tall Stature Applying to a Pediatric Endocrinology Clinic Open
Aim: Tall stature, defined as a height greater than 2 standard deviation score (SDS), affects 2.3% of children. Our study aimed to explore the causes of tall stature in children and assess the long-term outcomes for these cases. Materials …
View article: Short Stature in Klinefelter Syndrome From Aggrecan Mutation
Short Stature in Klinefelter Syndrome From Aggrecan Mutation Open
Despite tall stature being a characteristic feature of Klinefelter syndrome, occasional cases of short stature have been reported. These cases are often attributed to GH deficiency. This case report details a unique case of a 16-year-old m…
View article: Short Stature with Type-1 Diabetes: A Clinically Observed Case in Patients Suffering From Mauriac Syndrome
Short Stature with Type-1 Diabetes: A Clinically Observed Case in Patients Suffering From Mauriac Syndrome Open
Mauriac syndrome (MS) is an exceptionally rare disorder occurring in poorly controlled Type 1 diabetic patients. The consequences include dwarfism, obesity, hepatomegaly, delayed puberty, growth failure and higher levels of transaminase en…
View article: Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype
Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype Open
Key Clinical Message A comprehensive diagnostic approach is crucial for patients with primary amenorrhea and short stature. Karyotyping and imaging studies help to detect hidden chromosomal abnormalities and anatomical differences, emphasi…
View article: Van Wyk–Grumbach Syndrome and Gonadectomy
Van Wyk–Grumbach Syndrome and Gonadectomy Open
Van Wyk–Grumbach syndrome (VWGS) refers to the development of peripheral precocious puberty, long-standing hypothyroidism, and gonadal masses; when not diagnosed, an unnecessary gonadectomy may be performed. Herein, we present a case of a …
View article: Tall stature and gigantism in adult patients with acromegaly
Tall stature and gigantism in adult patients with acromegaly Open
Objectives Increased height in patients with acromegaly could be a manifestation of growth hormone (GH) excess before epiphysis closure. The aim of this study was to evaluate the relationship between the height of adult patients with GH ex…
View article: Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing?
Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing? Open
Context Familial tall stature (FTS) is considered to be a benign variant of growth with a presumed polygenic etiology. However, monogenic disorders with possible associated pathological features could also be hidden under the FTS phenotype…
View article: Hashimoto’s Thyroiditis in Noonan Syndrome: A Case Report
Hashimoto’s Thyroiditis in Noonan Syndrome: A Case Report Open
Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone deficiencies. We report a case of a 15-year-old female patient who pres…
View article: Investigating β Thalassemia Patients and Their Growth: A Brief Review and Our Clinical Experience
Investigating β Thalassemia Patients and Their Growth: A Brief Review and Our Clinical Experience Open
Background: The prevalence of short stature was reported high in thalassemia major patients. It causes mental and social problems for them. As different cut-off points for growth retardation are suggested in these patients, it is desirable…
View article: Idiopathic Short Stature - A Case Report
Idiopathic Short Stature - A Case Report Open
Short stature in childhood is the most common reason for referral to pediatric endocrinologists. Idiopathic short stature is defined as ³2 SD below the corresponding mean height for a given age, sex, and population in a child with a normal…
View article: <scp>CATSHL</scp> syndrome, a new family and phenotypic expansion
<span>CATSHL</span> syndrome, a new family and phenotypic expansion Open
We report the case of a 12‐year‐old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile‐onset hearing loss. The CATSHL (CAmptodactyly – Tall stature – Scoliosis – Hearing L…
View article: Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic <i>NSD1</i> variants: case reports with review of literature
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic <i>NSD1</i> variants: case reports with review of literature Open
We report three Japanese patients with Sotos syndrome accompanied by marked overgrowth, i.e., a 2 8/12-year-old boy with a height of 105.2 cm (+4.4 SD) (patient 1), the mother of patient 1 with a height of 180.8 cm (+4.1 SD) (patient 2), a…
View article: Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia
Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia Open
View article: Tall stature and gigantism in transition age: clinical and genetic aspects—a literature review and recommendations
Tall stature and gigantism in transition age: clinical and genetic aspects—a literature review and recommendations Open
View article: Short stature, dysostosis multiplex and storage disorder: mucolipidosis II
Short stature, dysostosis multiplex and storage disorder: mucolipidosis II Open
A girl in early childhood presented with global development delay, short stature and coarse facial features. She was born to non-consanguineous parents with no complications detected antenatally and had a normal birth weight. She had postn…
View article: OR04-03 Eunuchoid Skeletal Proportions In Male Hypogonadism: A Comparative Analysis Of Anthropometric Measures Between Men With Congenital Hypogonadotropic Hypogonadism (CHH) And Klinefelter Syndrome (KS)
OR04-03 Eunuchoid Skeletal Proportions In Male Hypogonadism: A Comparative Analysis Of Anthropometric Measures Between Men With Congenital Hypogonadotropic Hypogonadism (CHH) And Klinefelter Syndrome (KS) Open
Disclosure: S. De Vincentis: None. A. Bellelli: None. R. Corleto: None. L. Zirilli: None. A. Granata: None. V. Rochira: None. BACKGROUND: Patients with congenital hypogonatropic hypogonadism (CHH) and Klinefelter syndrome (KS) have eunucho…
View article: Addressing Short Stature is Still a Tall Order
Addressing Short Stature is Still a Tall Order Open
View article: Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”
Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” Open
View article: Letter to the Editor Regarding “Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature”
Letter to the Editor Regarding “Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature” Open
Clinical Research in Paediatric Endocrinology (Volume15
View article: Stature Estimation among Iraqis based on Anthropometrics of the Hands using Multivariable Regression
Stature Estimation among Iraqis based on Anthropometrics of the Hands using Multivariable Regression Open
Background: Estimating stature is of exceptional value in personal identification and the forensic sciences. At the same time, the literature lacks standardized methods for height estimation. Objectives: To estimate the stature of Iraqi in…