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Introduction: Arginine vasopressin deficiency (AVD) encompasses disorders marked by polyuria, polydipsia, hypernatraemia, and hyperosmolality. This study aims to refine diagnostic and therapeutic strategies to enhance the quality of life for AVD patients. Material and methods: We conducted a 25-year retrospective analysis of imaging, hormonal, auxological, and densitometric data from 31 children diagnosed with AVD at the Department of Paediatric and Adolescent Endocrinology, Children's Hospital in Krakow between 1998 and 2023. Results: The average duration from the onset of symptoms to AVD diagnosis was 10 months (range: 1–86 months), and from diagnosis to aetiology determination was 14 months (range: 0–86 months). Causes of AVD included idiopathic (9.7%), central nervous system tumours (61%), pituitary adenoma (5.2%), central nervous system malformations (9.7%), head trauma (6.5%), haemorrhage or hydrocephalus (6.5%), familial AVD (3.2%), and inflammatory central nervous system conditions (3.2%). Growth retardation was observed in 48.4% of cases, obesity in 41.9%, hormonal disorders in 61.3%, and low bone mass in 16.1%. Conclusions: We developed a diagnostic and metabolic evaluation scheme for AVD that facilitates earlier aetiology identification and helps prevent hormonal, metabolic, and bone complications. This approach is crucial for improving the quality of life in both developmental and adult stages for these patients. [ABSTRACT FROM AUTHOR]

Background: It has been reported that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi syndrome (PWS) may be a potential cause of their sudden death. In addition, the risk of CAI may increase during treatment with recombinant human growth hormone (rhGH). Objective: To prevent both over- and undertreatment with hydrocortisone, we evaluated the prevalence of CAI in a large multicenter cohort of pediatric pts with PWS analyzing adrenal response in the low-dose ACTH test (LDAT) and/or the glucagon stimulation test (GST) and reviewing the literature. Methods: A total of 46 pts with PWS were enrolled to the study, including 34 treated with rhGH with a median dose of 0.21 mg/kg/week. LDAT was performed in 46 pts, and GST was carried out in 13 pts. Both tests were conducted in 11 pts. The tests began at 8:00 a.m. Hormones were measured by radioimmunoassays. Serum cortisol response >181.2 ng/mL (500 nmol/L) in LDAT and >199.3 ng/mL (550 nmol/L) in GST was considered a normal response. Additionally, cortisol response delta (the difference between baseline and baseline) >90 ng/mL and doubling/tripling of baseline cortisol were considered indicators of normal adrenal reserve. Results: Three GSTs were not diagnostic (no hypoglycemia obtained). LDAT results suggested CAI in four pts, but in two out of four pts, and CAI was excluded in GST. GST results suggested CAI in only one patient, but it was excluded in LDAT. Therefore, CAI was diagnosed in 2/46 pts (4.3%), 1 treated and 1 untreated with rhGH, with the highest cortisol values of 162 and 175 ng/dL, but only in one test. However, in one of them, the cortisol delta response was >90 ng/mL and peak cortisol was more than tripled from baseline. Finally, CAI was diagnosed in one patient treated with rhGH (2.2%). Conclusion: We present low prevalence of CAI in pediatric pts with PWS according to the latest literature. Therefore, we do not recommend to routinely screen the function of the hypothalamic-pituitary-adrenal axis (HPAA) in all pts with PWS, both treated and untreated with rhGH. According to a review of the literature, signs and symptoms or low morning ACTH levels suggestive of CAI require urgent and appropriate diagnosis of HPAA by stimulation test. Our data indicate that the diagnosis of CAI should be confirmed by at least two tests to prevent overtreatment with hydrocortisone. [ABSTRACT FROM AUTHOR]

Joubert syndrome (JS) is a complex medical condition characterized by a pathognomonic midbrain-hindbrain malformation visible on brain imaging, which is known as the "molar tooth sign" (MTS). The presence of the MTS in the brain is the defining diagnostic criterion for JS. Individuals with JS commonly exhibit a developmental delay, hypotonia, and abnormal eye movements. In addition, neonatal breathing dysregulation is observed in about half of the cases. Midline brain defects associated with JS can lead to pituitary hormone abnormalities, thereby manifesting as multiple pituitary insufficiencies in the neonatal period, such as hypoglycemia and, in male patients, a micropenis with undescended testes. Although JS is a well-researched genetic condition, there is minimal information on the endocrinological aspects of JS. This manuscript aims to emphasize the spectrum of endocrinologic findings in JS through the retrospective evaluation of four cases characterized by combined pituitary dysfunctions, including secondary hypothyroidism, growth hormone deficiency, and panhypopituitarism. Highlighting these treatable aspects of JS is crucial, as continuous endocrinological monitoring can positively impact a patient's well-being, particularly in managing secondary adrenal and thyroid insufficiencies. [ABSTRACT FROM AUTHOR]

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The article discusses a study of combined pituitary hormone deficiency (CPHD) patients with a PROP1 mutation including two who had pituitary tumors removed. Tissue assessments reportedly showed epithelial cells forming microcystic structures that are linked with posterior lobe fragments and the presence of all hormonal phenotypes of cells. It is suggested that 'cystic hyperplasia of the intermediate pituitary lobe' be used for this pathology and that PROP1 assessments be given CPHD patients to bypass neurological interventions.

Genotype–phenotype correlation in patients with Prader–Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, n = 81), maternal uniparental disomy (UPD 15, n = 10), excluded DEL 15 (UPD 15 or imprinting centre defect, UPD/ID, n = 30). Group DEL 15 had an earlier genetic diagnosis and recombinant human growth hormone (rhGH) start (p = 0.00), with a higher insulin-like growth factor 1 (IGF1) level compared to group UPD/ID (p = 0.04). Among perinatal characteristics, there was only a tendency towards lower birth weight SDS in group UPD 15 (p = 0.06). We also compared data at rhGH start in relation to genetic diagnosis age—group 1: age ≤9 months, group 2: >9 months ≤ 2 years, group 3: > 2 years. Group 1 had the earliest rhGH start (p = 0.00), with lower body mass index (BMI) SDS (p = 0.00) and a tendency towards a higher IGF1 level compared to group 3 (p = 0.05). Genetic background in children with PWS is related to time of diagnosis and rhGH start, with a difference in IGF1 level before the therapy, but it seems to have little impact on perinatal data. Early genetic diagnosis leads to early rhGH treatment with favourable lower BMI SDS. [ABSTRACT FROM AUTHOR]

Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). To the best of our knowledge this is the first report of severe panhypopituitarism in a newborn borne by women with TS.

Introduction: Craniopharyngioma can cause neurological, ophthalmological and endocrine signs and symptoms., Aim of the Study: Retrospective analysis of symptoms accompanying diagnosis of craniopharyngioma in children., Material and Methods: 10 children and adolescents, 3.75-14.08 years old, median 8.96, treated in our centre in the years 1992-2010, with diagnosis of craniopharyngioma, were included into the study. In the analysis clinical symptoms at the moment of diagnosis, before surgery treatment were taken into consideration. Data from medical histories, physical examination, auxological data, biochemical and hormonal parameters were analyzed., Results: Among 10 patients, 9 had headaches, 4 had experienced vomiting, 2 had symptoms of cranial hypertension, 6 had vision disorders, 8 had endocrine disorders. A decrease of growth rate was observed in 5 children (among 7 with previous anthropometric data), diabetes insipidus in 2, gain of body weight and delayed puberty in 1, and secondary hypothyroidism in 1 patient. Endocrine disorders appeared on average 13 months before diagnosis of craniopharyngioma. Among them the earliest was the decrease of growth rate - on average 23 months before the diagnosis, and the latest diabetes insipidus - 2 months before it. The most frequent symptom - headaches appeared 2 months before the diagnosis., Conclusions: 1. Endocrine symptoms are early symptoms of craniopharyngioma, which usually appear before neurological, and ophthalmological disorders. 2. Craniopharyngioma may be a cause of growth disorders in children and adolescents, therefore a detailed analysis of height data on growth charts in pediatric patients is very important for the diagnosis.

Background: Long-term endocrine complications affect approximately 40% of childhood cancer survivors., The Aim: The retrospective analysis of parameters of the endocrine system function up to 10 years after head radiotherapy (RT) and chemotherapy (CT) due to malignant solid tumor of the central nervous system., Material and Methods: The analysis included 30 patients (15 girls; 15 boys) followed in Endocrine Outpatient Department, University Children's Hospital of Krakow for 1-10 years (mean 5.8 years) after completion of cancer therapy., Results: There was no endocrinopathy in 11 patients (34%), but only five of them were followed for longer than 5 years. A single endocrine disorder was seen in patients (28%), two independent disorders in six (20%), three in three children (10%), and four in two (6.7%). The most common endocrine disorder was growth hormone deficiency (GHD) (13 patients, 46.6%). Primary and secondary hypothyroidism were observed in seven (23%) and two patients (6.7%), respectively, secondary adrenal insufficiency in two (6.7%), hypogonadotropic or hypergonadotropic hypogonadism in seven (23%) and two patients (6.7%), respectively. Obesity without any hormone deficiency was present in five patients (16.6%) patients, in one case, the condition was complicated by glucose intolerance, in four children, by a high level of triglycerides and low HDL cholesterol., Conclusions: 1. Late endocrine complications after malignant brain tumor treatment affect 66% of patients followed for 1-10 years after completion of RT. That points to the necessity of long-term, regular followup of the patients after cancer treatment. 2. The most common endocrinopathy is GHD, followed by hypothyroidism, hypogonadism and adrenal insufficiency. 3. In patients after head RT and CT in childhood, there is noted secondary obesity, with complications typical for metabolic syndrome.

Background: In addition to stimulating bone growth in length, human recombinant growth hormone (rhGH) significantly affects in a direct and IGF-I-mediated manner body composition (body fat/lean body mass ratio) and skeletal maturation in vitro and in vivo. The direct role of rhGH on bone mineralization and its effect on bone mineral density is controversial., Aim: To compare growth and body composition, bone mineral density (BMD) and bone mineral content (BMC) in prepubertal children with isolated growth hormone deficiency (GHD) and congenital multihormonal pituitary deficiency (MPD), including MPD resulting from the PROP-1 gene mutation., Material and Methods: The study included 53 children (36 boys and 17 girls) aged 8.4 +/- 3.2 years with diagnosed GH deficiency. The subjects were divided into three groups. Group 1 consisted of patients with MPD resulting from the PROP-1 gene mutation: 14 children (8 girls and 6 boys) aged 6.4 +/- 2.1 years, Group 2 included children with MPD resulting from causes other than the PROP-1 gene mutation: 21 patients (5 girls and 16 boys) aged 9.6 +/- 3.9 years, while Group 3 represented children with GHD: 18 subjects (4 girls and 14 boys) aged 8.6 +/- 2.5 years. All the children were clinically and biochemically euthyreotic. The patients were assessed auxologically every three months. Their bone age was evaluated every year. Puberty stages were determined according to Tanner. BMI was calculated in keeping with the equation: kg/m2. Bone densitometry and body composition were determined by DEXA (DPX-IQ Lunar) prior to initiation of rhGH substitution and at yearly intervals in the course of rhGH treatment., Results: Prior to commencement of rhGH substitution, the height of the PROP [+] patients was the lowest of all groups, with statistical significance demonstrated when comparing the above children to the GHD group (PROP [+]: -3.3 SD; PROP [-]: -2.8; GHD: -2.7 SD). Growth analysis in the three groups of patients showed a statistically significant improvement in each group, with the strongest effect in the PROP [+] group; the respective height increase in particular groups was: PROP [+]: 2.8 SD; PROP [-] 1.6 SD; GHD 1.9 SD. After 4-year rhGH substitution, patients with MPD PROP [+] and PROP [-] demonstrated an increase of BMC by 585.9 g and 350.2 g, respectively; no significant increase was observed in the GHD group. Prior to treatment, all the groups showed a comparable decrease of lumbar spine BMD (BMD LS): Z-score PROP [+] (-) 2.5 SDS; PROP [-] (-2.8) SDS; GHD (-) 2.0 SDS. In subsequent years of treatment, the BMD LS values were within normal range, i.e. above (-) 2.0 SD. A statistically significant increase of BMD LS by (+) 1.1 SD was noted in the PROP [-] patients. In all the groups, the mean total BMD values were within normal range, i.e. above (-) 2.0 SD prior to initiation of rhGH substitution and in subsequent years of follow-up. Prior to commencement of rhGH substitution vBMDLS SDS of the PROP [+] patients was the lowest of all groups, with statistical significance demonstrated when comparing the above children to the GHD group (PROP [+]:(-)2,8 +/- 1,6; PROP [-]:(-)1,9 +/- 1,8; GHD: (-)1,9 +/- 2,3 SD. After 4-year rhGH substitution lowest values of vBMDLS SDS were found also in PROP[+]: (-)1,6 +/- 1,3 SD, ans subsequently PROP[-]: (-)0,9 +/- 1,0 and SNP: (-)0,7 +/- 1,8 SD. Body fat percentage prior to rhGH substitution was the highest in the PROP [+] patients and the lowest in the GHD group: PROP [+]: 28%, PROP [-]: 26%, GHD: 20%, with the difference between PROP [+] and GHD being statistically significant. During all study period all children remained prepubertal., Conclusions: 1) Patients with MPD and the PROP1 gene mutation are characterized by a shorter stature, lower BMD and lower lean body mass as compared to MPD patients without PROP1 mutation and to GHD patients. 2) In comparison to children with GHD, rhGH substitution in patients with MPD exerted a more favorable effect on their growth, BMD and body composition.

Background: Obesity affects approximately 45 millions of children worldwide. Some of them present with secondary dyslipidemia that leads to premature atherosclerosis., Aim of the Study: 1) Assessment of the frequency and type of dyslipidemia in obese adolescents. 2) An attempt at defining risk factors of atherogenic lipid profile in obese adolescents., Material and Methods: In 146 (84 girls/62 boys) obese (mean BMI SDS 4.95, 95% CI 4.62-5.29) adolescents (age 10-18, mean 14.7 years), the levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDLc), high-density lipoprotein cholesterol (HDLc) and triglicerydes (TG) were measured. Atherogenic dyslipidemia was defined as a high TG level with a concomitant low HDLc level. Standard oral glucose tolerance test was performed with the assessment of fasting and after 120' post-load of 75 g of glucose and insulin levels; the insulin resistance index HOMA-IR was calculated., Results: The mean values of the lipid fractions were in normal ranges: TC 4.64 mmol/L (95% CI 4.48-4.8), LDLc 2.86 mmol/L (95% CI 2.73-2.99), TG 1.4 mmol/L (95% CI 1.3-1.5), and HDLc 1.16 (95% CI 1.1-1.2). However, in 50.69% of the patients (45.24% girls and 58.06% boys), elevated levels of TC, LDLc, and TG were observed respectively in 23.29%, 17.81% and 37.67%, and low HDLc in 15.07% of patients. A total of 10.96% of the patients presented with coexistence of a low HDLc and a high TG. In 26.7%, dyslipidemia was followed by arterial hypertension. There was a reverse correlation between a low HDLc value and BMI SDS [R (-) 0.22, p < 0.05] and not with TC, LDLc, and TG. The relative risk of abnormal lipid profile occurrence was higher in obese patients with insulin resistance (OR 1.72; 95% CI 0.8-3.4; p = 0.12), being significant only for boys (OR 3.67; 95% CI 1.1-12.1; p = 0.03). There was a reverse correlation between fasting insulin level, HOMA-IR and HDLc [R (-) 0.2; p < 0.05; R (-) 0.2; p < 0.05) respectively], as well as TG (R 0.26 ; p < 0.05; R 0.26; p < 0.05, respectively), and between post-load insulin level and TG (R 0.24; p < 0.05)., Conclusions: 1) Lipid disorders occur in about one-half of obese adolescents, of which 10% presents with atherogenic lipid profile. 2) One of the most important risk factors of atherogenic lipid profile occurrence is insulin resistance, especially in boys. The severity of the obesity (BMI-SDS) is of lesser importance.