Česko-slovenská pediatrie, 2025 (vol. 80), Suppl.3
40 years of "growth hormone era": Czech footprint in the global recognition and treatment of children with growth disorders
Jan Lebl, Jiřina Zapletalová
Čes-slov Pediat 2025, 80(90):7-17 | DOI: 10.55095/CSPediatrie2025/052 
Recombinant human growth hormone was firstly used 40 years ago. The "growth hormone era" substantially increased the research interest in growth regulation and in elucidation etiopathogenesis of various growth disorders. Some research findings led to novel indications of growth hormone therapy. Alongside with growth hormone deficiency, growth hormone is currently indicated for treatment of pediatric patients with Turner syndrome, Prader-Willi syndrome, Noonan syndrome, with SHOX gene/protein deficiency, in those born small for gestational age with short stature in childhood (SGA-SS), and in short children with chronic renal disease. This review is...
Schaaf-Yang syndrome - a rare cause of hypopituitarism and central diabetes insipidus
Renata Pomahačová, Petra Paterová, Eva Nykodýmová, Petr Polák, Josef Sýkora, Ivan Šubrt, Radka Jaklová
Čes-slov Pediat 2025, 80(90):18-21 | DOI: 10.55095/CSPediatrie2025/047
Schaaf-Yang syndrome (SYS) is a rare autosomal dominantly inherited disorder caused by pathogenic sequence variants of the MAGEL2 gene. The gene is subject to genomic imprinting with expression of only the mutated paternal allele of the MAGEL2 gene. SYS shares many clinical features with the genetically related Prader-Willi syndrome (PWS), which is related to the localization of the gene in the PWS-like region on chromosome 15. SYS is characterized by a variable phenotype with facial dysmorphism, joint contractures, muscle hypotonia, respiratory problems, eye defects, psychomotor retardation (PMR), endocrine disorders, failure to thrive...
Euvolemic hypotonic hyponatremia in a boy with corpus callosum agenesis and neurodevelopmental delay
David Neumann
Čes-slov Pediat 2025, 80(90):22-24 | DOI: 10.55095/CSPediatrie2025/048
Acute and subacute syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common complication in acute medicine, including children. Long-term euvolemic hyponatremia is rare in children, except for long-term administration of drugs affecting natremia. It can be caused by various forms of SIADH. A case report of 14 years old boy with agenesis of the corpus callosum presents diagnostic and differential diagnostics options within the SIADH syndrome.
Precocious puberty in a thirteen-month-old toddler
Kamila Kocourková, Jarmila Kruseová, Soňa Cyprová
Čes-slov Pediat 2025, 80(90):25-27 | DOI: 10.55095/CSPediatrie2025/045
Precocious puberty is defined as the onset of puberty earlier than 2.5 SD of the mean population standard - breast enlargement in girls before 8 years of age or increasing testicular volume in boys before 9 years of age. We present case of a thirteen-month-old girl who suddenly developed progressive breast enlargement and fine dark pubic hair. Laboratory results ruled out central precocious puberty. Due to elevated estradiol levels, peripheral precocious puberty (precocious pseudopuberty) was suspected. Imaging revealed a large mass originating from the right ovary. After referral to a higher-level facility, a laparotomic right-side adnexectomy was...
Eliška is the spitting image of her mother - or the long road to diagnosis. Imagawa-Matsumoto Syndrome (IMMAS)
Ivana Röschlová, Marie Holbová
Čes-slov Pediat 2025, 80(90):28-31 | DOI: 10.55095/CSPediatrie2025/046
The authors present case report of a mother and a daughter with a highly similar phenotype of generaliz ed overgrowth, musculoskeletal abnormalities, multiple dysmorphic features, recurrent respiratory tract infections, a range of neurodevelopmental and psychosocial difficulties, congenital heart defects and urogenital tract malformations. Following multiple genetic testing, whole-exome sequencing identified the same variant, c.370A>T, in the SUZ12 gene in both patients. This gene encodes a subunit of the polycomb repressive complex 2 (PRC2) which plays a crucial role in the regulation of gene expression during development. Variants of SUZ12...
It's not always just anorexia nervosa
Martina Kulinová
Čes-slov Pediat 2025, 80(90):32-34 | DOI: 10.55095/CSPediatrie2025/049
An 18-year-old girl was referred by a psychiatrist to pediatric department for examination due to weight loss and for objectifying her condition. The girl was already known to have celiac disease and hyperthyroidism due to autoimmune thyroid disease. Clear signs of advanced diabetic ketoacidosis were already present upon admission. The examination also considered other serious conditions, particularly Addison's disease or relapse of thyrotoxicosis. However, she apparently newly manifested type 1 diabetes mellitus with blood glucose 28.5 mmol/l, HbA1c 122 mmol/mol, and pH 6.985. The girl is now on an intensified insulin regimen and remains under the...
Two generations of a family with a variant growth hormone molecule
Barbora Jírová*, Lukáš Kavčiak*, Petra Dušátková, Lukáš Plachý, Jan Lebl
Čes-slov Pediat 2025, 80(90):35-38 | DOI: 10.55095/CSPediatrie2025/054
Growth hormone deficiency (GHD) results in serious short stature. In individual families, this condition may be caused by pathogenic gene variants. We present two half-siblings sharing the same father who were subsequently, over several years, diagnosed with GHD using stimulation tests. Genetic investigation confirmed a pathogenic missense GH1 gene variant c.626G>A (p.Arg209His) with autosomal dominant transmission. GH1 gene encodes the human growth hormone molecule. With this variant, GH bioactivity remains unchanged but growth hormone release from pituitary cell secretory granules is compromised and delayed. Growth hormone stimulation...
Country-wide register of pediatric growth hormone treatment recipients REPAR - a 2025 report
Aneta Kodytková, Jan Lebl, Stanislava Koloušková, skupina pro růstový hormon v pediatrii České endokrinologické společnosti*
Čes-slov Pediat 2025, 80(90):39-44 | DOI: 10.55095/CSPediatrie2025/051
Since 2014, the Czech national registry REPAR has been collecting longitudinal data on patients treated with somatropin (recombinant human growth hormone; rhGH), and since 2023 also with long-acting growth hormone analogue somatrogon (Ngenla ®). Additionally, data from previous international database systems since 1992 have been incorporated into this registry - thus, it represents a nearly complete collection of patients receiving growth hormone in the Czech Republic since the initiation of rhGH administration. As of January 1st, 2025, the paediatric module of REPAR registry contained data on 6009 children and adolescents, of these 3421 were reported...
Genetic testing in pediatrics
Petra Dušátková, Jan Lebl
Čes-slov Pediat 2025, 80(90):45-50 | DOI: 10.55095/CSPediatrie2025/050
Since most, exclusively genetically determined diseases manifest in childhood, genetics is an important part of pediatrics. Genetic testing should be considered, for example, in children with significant developmental delay, intellectual disability of unclear origin , dysmorphic features, abnormal physical growth, unusually early or severe onset of clinical conditions, or a positive family history of genetic disease. Genetic variations from the reference sequence range from a single nucleotide alteration in a DNA strand to changes in the number of entire chromosomes and can therefore be detected by various molecular or cytogenetic methods. The development...