Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12). The phenotype is variable and presents a wide clinical spectrum. Most cases are characterised by thin, sparse scalp hair, distinctive facial dysmorphism, and various skeletal abnormalities, especially of the hands and feet. Characteristic facial features may include a "pear-shaped" nose, micrognathia, dental anomalies, prominent ears, elongated philtrum, and thin upper vermillion border. In most cases, affected individuals exhibit skeletal abnormalities including brachydactyly and clinodactyly, short metacarpals phalanges, short feet and metatarsals, and pectus carinatum and hip joint malformations. Additionally, patients may exhibit short stature. This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and various skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and dental specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affected individuals and their families.

Introduction: In the light of recent studies, the usefulness of the metabolic syndrome diagnosis in obese pediatric patients seems to be controversial. It leads to the pressing questions, if the metabolic syndrome diagnosis is reflecting risk of the cardiovascular complications in obese children. Aim of the study: To evaluate the incidence of metabolic syndrome in obese children, asses the role of insulin resistance in the metabolic complications and investigate if the diagnosis of MS has a clinical value in that group of patients. Material and methods: After the retrospective analysis of 588 records of obese children treated in metabolic outpatient clinic, 289 children (145 boys) in the mean age of 11 years, was qualified to the study. Diagnosis of metabolic syndrome was based on IDF 2009 criteria and HOMA-IR was used in the assessment of insulin resistance. Results: Metabolic syndrome was diagnosed in 69 children (24%) including 42 girls (61%, p < 0.05). Mean age was higher (12.4 vs. 10.9, p < 0.05) in patients with metabolic syndrome. Initial BMI Z-score was similar in the both groups (2.93 SD vs. 2.92 SD). However, further follow-up showed significantly (p < 0.001) less effective BMI z-score reduction in patients with metabolic syndrome. Insulin resistance was observed significantly more often in children with metabolic syndrome (77% vs. 35%, p < 0.0001). Moreover, aminotransferases were significantly higher in boys with metabolic syndrome (AST = 35 vs. 28 U/l, ALT = 38 vs. 23 U/l, p < 0.0001). Conclusions: The diagnosis of metabolic syndrome in obese children seems to have a predictive value for the clinical practice. Affected children are older and their criteria are present more often in girls. Insulin resistance seems to be an important factor associated with metabolic syndrome in obese children. The outcomes of behavioral therapy are less effective in children with metabolic syndrome. Affected boys are at higher risk of non-alcoholic fatty liver disease (NAFLD) in the future.

A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical picture of acute adrenal crisis with vomiting, dehydration, weight loss, hypotension, and electrolyte disturbances. At the time, hormonal tests revealed primary adrenocortical insufficiency and steroid profiles showed lack of products of steroidogenesis, and since then the patient has been treated with substitution doses of hydrocortisone and fludrocortisone. At the age of 14, considering the absence of puberty symptoms, extended diagnostic tests revealed elevated LH levels (26.5 mIU/mL) with pre-puberty FSH levels (4.9 mIU/mL), low estradiol (28 pmol/L), testosterone (<2.5 ng/mL), and extremely high levels of ACTH (4961 pg/mL). A cytogenetic study revealed a 46 XY karyotype. A molecular examination confirmed the missense mutation and a novel splice-site mutation of CYP11A1 gene. Compound heterozygosity for the CYP11A1 gene with a known pathogenic variant in one allele and a novel splice site mutation in the second allele is most probably responsible for congenital adrenal insufficiency with 46,XY sex reversal. We discuss the necessity of cytogenetic test in the case of early onset of adrenal failure in the absence of steroidogenesis metabolites in the steroid profile.

The child was of Polish descent, born GV PIII on time, spontaneous delivery, Apgar 10, with a body weight of 4,040 g, and normal postnatal development. The family history revealed the death of the patient's brother on the fourth day of life; the autopsy examination showed a subcapsular hematoma of the left lobe of the liver, and kidney bleeds; the mother had had two spontaneous miscarriages. ResultsCranial ultrasound (CrUSS) and computed tomography (CT) of the head showed a focal lesion in the form of an intracerebral hematoma with a mass effect in the right frontal lobe.Basic coagulation parameters were urgently determined, showing platelet count 257.0 K/µL (N), activated partial thromboplastin time (APTT) 449.6 s (reference values: 27.2−53.3 s), prothrombin time (PT) 60.7 s (reference values: 9.1−12.1 s), prothrombin index 18.2% (reference values: 88−120%), international normalized ratio (INR) 5.71 (reference values: 0.9−1.39), and bleeding time 8 s (reference values: 4−8 s). Other laboratory test results were normal. The child had blood group 0 Rh (+).After a fresh frozen plasma (FFP) transfusion, the girl was urgently operated on; a right frontal craniotomy with the removal of the hematoma was performed. The diagnostics of coagulation disorders was extended to include the activity of coagulation factors. The first measurement was performed 48 hours after the FFP transfusion. Significantly decreased factor V (FV) activity (5.4%; reference values: 62−139%) and decreased ristocetin cofactor (vWFR:Co) activity (34.4%; reference values: 53−148%) were found.