...Diego Zepeda; Veronica Mericq Introduction: Management of pediatric patients with short stature or short predicted adult height (PAH) is challenging. The use of aromatase inhibitors (AIs) has become a therapeutic option. Up to date, there is still scarce data about the indications of AI. Our aim...

.... 2025 Introduction: Short stature can lead to physical limitations and socioemotional effects limiting a child and parents’ quality of life (QoL). This study investigates the impact of hypochondroplasia and other genetic causes ( ACAN , NPR2 mutations, and RASopathy) of short stature on QoL...

... for short stature in children born SGA [ 7, 25 ], with its long-term clinical benefits well demonstrated [ 7 , 26‒28 ]. VLBW children were associated with an overrepresentation of SGA; additionally, those born very preterm with EUGR may not experience catch-up growth, following a similar growth pattern...

... whole or partial gene deletions and one frameshift variant resulting in a premature stop codon (three de novo, one unknown inheritance). In the other two families, variants segregated with short stature. Mean (SD) birth length was −1.9 (1.3) SDS ( n = 7), height −3.8 (0.6) SDS, head circumference −2.5...

... Duyvenvoorde Introduction: The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented. Methods: This observational case series of 42 short children...

... unrelated families presented to their endocrinologists with short stature and abnormalities in thyroid function results. P1 showed hypoactivity and mild thyroid-stimulating hormone (TSH) elevation. P2 presented with a mild developmental delay and a hormonal profile initially interpreted as central...

..., distinct facial features, and high prevalence of epilepsy and sleep problems. Despite some reports of short stature among AS patients, this feature is not included in the clinical criteria defined in 2005. We investigated growth patterns among AS patients with respect to mutation type, growth periods...

... whether children with ADHD and short stature or growth failure are more likely to fail GHST compared to children without ADHD. Methods: We retrospectively studied children who underwent GHST as part of evaluation for short stature and/or growth failure and had an intact pituitary over a 16-year period...

... liver function, and basal levels of LH, FSH, and testosterone) were performed at baseline and every 6 months up to 12 months. Body composition Linear growth Nutritional supplementation Preadolescents Short stature Puberty is a dynamic stage in development, characterized by abrupt...

..., psychosocial problems, or underlying genetic conditions that prevent adequate nutritional intake. Laboratory screening should be part of the workup in every child with short stature, and further laboratory tests can be indicated if warranted by the dietary history, especially in children on a poorly planned...

... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Small for gestational age Short stature Genetics GH-IGF-1 axis Growth plate Approximately 5...

... phenotype including sparse lateral eyebrows, pear-shaped nasal tip, and large prominent ears, plus skeletal abnormalities including short stature and brachydactyly. WES and Sanger sequencing identified the TRPS1 c.880_882delAAG variant in affected family members. In vitro functional studies showed...

...Naiara C.B. Dantas; Mariana F.A. Funari; Gabriela A. Vasques; Nathalia L.M. Andrade; Raíssa C. Rezende; Vinicius Brito; Renata C. Scalco; Ivo J.P. Arnhold; Berenice B. Mendonca; Alexander A.L. Jorge Introduction: Isolated SHOX haploinsufficiency is a common monogenic cause of short stature. Few...

..., instructions or products referred to in the content or advertisements. 2022 Growth hormone Long-acting growth hormone Growth Short stature Growth hormone deficiency Growth hormone therapy Since 1985, recombinant human growth hormone (rhGH) has been used for the treatment of GH deficiency...

... microcephalic short stature and bilateral peripheral deafness was referred to the pediatric endocrinology clinic for primary amenorrhea and recurrent fractures of long bones. She was born after a third pregnancy of healthy nonconsanguineous parents originating from a rural area around Santiago de Chile...

... seek treatment at short stature clinics. Subjects and Methods: The present study included 3,902 children who visited 17 short stature clinics with a height SD score of −2 SD or less. The percentage of children who underwent the GH stimulation test was compared between boys and girls...

...Abdullah Almaghraby; Alok Jaju; Maura E. Ryan; Karen Rychlik; Reema L. Habiby; Wendy J. Brickman Introduction: Short stature is a common concern that necessitates pediatric endocrinology evaluation. Growth hormone deficiency (GHD) is a commonly considered etiology. Brain and pituitary magnetic...

..., quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Growth hormone Insulin-like growth factor I Short stature Growth hormone...

... Equatorial Guinea harboring a homozygous frameshift mutation in PLK4 (c.1299_1303del, p.Phe433Leufs*6). A Seckel syndrome spectrum phenotype was present in both siblings, with short stature, severe MCPH, reduced brain volume, and distinctive facial features. They also presented severe intellectual disability...

... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Growth hormone Short stature...