Background: Deletion of the long (q) arm of chromosome 18 causes a rare genetic disease termed 18q- syndrome. This syndrome has varying clinical presentation, depending on the extent of the deletion and the percentage of cells with abnormal chromosomes. One of the most common disorders in children affected by the disease is short stature, usually associated with growth hormone deficiency. Numerous reports on patients with 18q- syndrome show growth hormone treatment has significant therapeutic benefits, not only in terms of final body height but also cognitive functions and psychosocial development.
Case Presentation: Here we describe the case of a 10-year-old girl with 18q- syndrome treated with recombinant human growth hormone from the age of 2. This is the first report of such a patient in Poland. After 8 years of observation, the child showed a clear benefit from recombinant human growth hormone treatment in terms of height and possibly mental development. The girl remains under cardiac care due to congenital heart disease and under neurological care for epilepsy.
Conclusions: This case indicates the need for early diagnosis and multidisciplinary action to achieve satisfactory quality of life in patients with 18q- syndrome.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.
J Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
View Article and Find Full Text PDFexpression in skeletal muscle in relationship with insulin sensitivity in normal-weight and obese volunteers.
J Diabetes Metab Disord
June 2025
Department of Prophylaxis of Metabolic Diseases, Institute of Animal Reproduction and Food Research, Polish Academy of Sciences, Żurawia 71A, Białystok, 15-540 Poland.
Objectives: Retinoid X receptors (RXRs) are nuclear hormone receptors (NRs) functioning as transcription factors. There are three RXR isoforms: RXRA (NR2B1), RXRB (NR2B2), and RXRG (NR2B3). RXRs serve as master regulators of gene networks governing cell growth, differentiation, survival, and death.
View Article and Find Full Text PDFReceptor discordance after nipple-sparing mastectomy.
Surg Pract Sci
June 2024
Department of Breast and Endocrine Surgery, Okayama University Hospital, Okayama, Japan.
Background: Recent studies have shown that receptor status of breast cancer change between primary tumor and recurrence, which may influence treatment strategy and prognosis, but there are few reports on receptor discordance between primary tumors and local recurrence (LR) after nipple-sparing mastectomy (NSM).
Patients And Methods: We collected 74 patients who had LR after NSM for newly diagnosed stages 0 to 3 breast cancer between 2008 and 2016 at 14 institutions. We classified into 4 subtypes based on hormone receptor (HR) and human epidermal growth factor receptor 2 (HER2).
Purpose: Uterine leiomyomas (ULMs) are classified into those with and without MED12 mutations (MED12m(+) and MED12m(-), respectively). This study was undertaken to establish a culture system to evaluate the effect of female hormones on the growth of ULM cells in each ULM subtype.
Methods: ULM cells isolated from MED12m(+) or MED12m(-) tissues were cultured in a monolayer for 7 days with four hormone treatments: estrogen (E) and progesterone (P) (E + P), E only (E), P only (P), and medium only (CTRL).
Dietary phytosterols increased the rate of weight gain, antioxidant capacity and growth of beneficial strains of bacteria in the gut and suppressed the population of potentially pathogenic bacteria in largemouth bass (Micropterus salmoides).
J Anim Sci
January 2025
Laboratory of Aquatic Animal Nutrition and Feed, College of Fisheries, Guangdong Ocean University, Zhanjiang, Guangdong, 524088, China.
This study was to evaluate the effects of dietary adding of phytosterol (PS) on growth, antioxidant capacity, tissue morphology and gut microbiota of largemouth bass (Micropterus salmoides). A total of 540 largemouth bass (13.75 ± 0.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!