Anna Małgorzata Kucharska

Background: Diabetes insipidus (DI) in newborns is an extremely rare condition, with the age of presentation strongly suggesting a genetic background of the disease. The differential diagnosis should include arginine vasopressin deficiency (AVD) and arginine vasopressin resistance (AVR). Some novel diagnostic tools such as copeptin evaluation and genetic tests are vital for early diagnosis. Case report: We present the case of a 1-month-old boy with polyuria observed since birth. Laboratory tests showed persistent hypernatremia, elevated plasma and low urine osmolality. An attempt at oral administration of desmopressin had no effect; additionally the copeptin level was increased. A genetic study (NGS of the AVP, AVPR2 and AQP2 genes) was considered and a new pathogenic variant in the AVPR2 gene (hemizygous c.157del) was detected. After the genetic test result was obtained, treatment with hydrochlorothiazide was started. The patient is now 3 months old, developing normally, and the weight and height are normal. Conclusions: Newborns with DI should be subjected to extensive multidisciplinary diagnostics, including endocrine and renal causes. Copeptin evaluation and prompt genetic diagnosis allows for the early diagnosis and implementation of appropriate treatment.

Diabetes insipidus (DI) in newborn is an extremely rare condition, simultaneously the age of presentation is a strong suggestion of genetic background of disease. The differ-ential diagnosis should include arginine vasopressin deficiency (AVD) and arginine vasopressin resistance (AVR). Some novel diagnostic tools such as copeptin evaluation and genetic tests are vital for the early diagnosis. Case report: We present the case of a 1-month-old boy with polyuria observed since birth. Laboratory tests showed persis-tent hypernatremia, elevated plasma and low urine osmolality. An attempt at oral administration of desmopressin had no effect, additionally copeptin level was in-creased. A genetic study (NGS of the AVP, AVPR2 and AQP2 genes) was taken and a new pathogenic variant in the AVPR2 gene (hemizygous c.157del) was detected. After the genetic test result was obtained, treatment with hydrochlorothiazide was started. The patient is now 3 months old, developing normally, weight and height are normal. Conclusions: A newborn with DI should be subjected to extensive multidisciplinary diagnostics including endocrine and renal causes. Copeptin evaluation and prompt genetic diagnosis allows for early diagnosis and implementation of appropriate treat-ment.

Introduction: Obesity is thought to be accompanied by chronic, low-grade, inflammation. The adipocytes are present in the subcutaneous and visceral fat tissue and contribute to the bone marrow cell compartment. Therefore, it poses a question whether the factors influencing adipocyte functions also have an impact on the hematopoietic function of the bone marrow. The aim of our study was to evaluate the association between erythrocyte parameters, the proinflammatory Th17 lymphocytes, and IR markers in children with excessive body weight.Methods: A total of 27 overweight/obese and 15 normal-weight children aged 8–18 years were enrolled in the study. The analysis included anthropometric measurements, evaluation of Th17 cell frequency, erythrocyte parameters, and carbohydrate metabolism parameters.Results: In overweight/obese children, erythrocyte count (p = 0.00002), hemoglobin (HGB) concentration (p = 0.005), and frequency of Th17 cells (p = 0.048) were higher. Anthropometric parameters correlated with erythrocyte parameters, as well as Th17 cell frequency in all children. The erythrocyte count correlated with the Th17 subset (p = 0.01, r = 0.38). Moreover, in all children, the correlation between erythrocyte and fasting insulin (FI) (p = 0.00005, r = 0.58), HOMA-IR (p = 0.00005, r = 0.58), and QUICKI (p = 0.000042, r = −0.59), as well as between HGB and FI (p = 0.037, r = 0.32), HOMA-IR (p = 0.37, r = 0.32), and QUICKI (p = 0.049, r = −0.31) was found. In the overweight/obese group, erythrocyte count correlated with insulin 2 h after the oral glucose tolerance test (OGTT) (p = 0.04, r = 0.4), while HGB correlated with glucose and insulin 2 h after OGTT (p = 0.018, r = 0.45; p = 0.04, r = 0.44, respectively).Conclusions: Our study confirmed that the erythrocyte parameters are higher in children with obesity and are positively correlated with insulin resistance and proinflammatory Th17 lymphocyte. Thus, it can be concluded that erythrocyte parameters reflect the risk of developing IR in response to chronic inflammation associated with obesity. These are simple, easily accessible, and repeatable tests that, in the assessment of obese patients, may herald the developing metabolic syndrome and serve as a helpful additional tool for assessing the effectiveness of treatment.

Recombinant human growth hormone therapy (rhGH) has been widely accepted as the safe treatment for short stature in children with such genetic syndromes as Prader–Willi syndrome and Turner or Noonan syndrome. Some patients with short stature and rare genetic syndromes are treated with rhGH as growth hormone-deficient individuals or as children born small for their gestational age. After years of experience with this therapy in syndromic short stature, it has been proved that there are some aspects of long-term rhGH treatment beyond growth promotion, which can justify rhGH use in these individuals. This paper summarizes the data of a literature review of the effects of rhGH treatment beyond growth promotion in selected genetic syndromes. We chose three of the most common syndromes, Prader–Willi, Turner, and Noonan, in which rhGH treatment is indicated, and three rarer syndromes, Silver–Russel, Kabuki, and Duchenne muscular dystrophy, in which rhGH treatment is not widely indicated. Many studies have shown a significant impact of rhGH therapy on body composition, resting energy expenditure, insulin sensitivity, muscle tonus, motor function, and mental and behavioral development. Growth promotion is undoubtedly the primary benefit of rhGH therapy; nevertheless, especially with genetic syndromes, the additional effects should also be considered as important indications for this treatment.

A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last 15 years suggests that the risk of gonadal tumors could be increased in familial compared to sporadic cases (66.6% vs. 15–45%, respectively).

The aim of the study was to investigate the influence of birth weight (BW), birth length (BL) and gestational age (GA) on growth pattern and metabolic profile in appropriate-for-gestational-age (AGA) growth hormone-deficient children before and during recombinant human growth hormone (rhGH) therapy. Forty children with isolated idiopathic growth hormone deficiency underwent auxological and biochemical assessment at baseline and after 6 and 12 months of rhGH therapy. Biochemical analysis included: insulin-like growth factor I (IGF-I), adiponectin, resistin, fasting glucose, fasting insulin, total cholesterol (total-C), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG) and glycated haemoglobin (HbA1c). There was a tendency for positive association between BW and baseline height standard deviation score (SDS). GA correlated with baseline weight SDS (p=0.019) and BMI SDS (p=0.039). GA was associated with baseline fasting glucose (p=0.031), fasting insulin (p=0.027), HOMA-IR (p=0.010) and QUICKI (p=0.016). BW correlated with baseline HbA1c (p=0.032). After the initiation of rhGH therapy we did not find any significant relationships between birth size parameters or GA and metabolic profile of the studied children. In conclusion, our results suggest that AGA GH-deficient children born with higher birth size parameters and higher GA had better first-year growth response to rhGH therapy and better baseline metabolic profile, especially parameters of carbohydrate metabolism. In order to optimize the effects of rhGH therapy, higher rhGH doses should be considered in those GH-deficient children who were born with lower birth size and GA.

Introduction: In the majority of countries, autoimmune thyroiditis is the main cause of acquired hypothyroidism in children. Typically, the natural course of the disease is initially insidious and the diagnosis is incidental. There are some children who develop severe hypothyroidism without a proper diagnosis. The aim of the study was to analyze the clinical and biochemical profiles of children with severe primary hypothyroidism due to autoimmune thyroiditis. Materials and Methods: We analyzed the records of 354 patients diagnosed between 2009 and 2019 with autoimmune thyroiditis. Only patients with TSH above 100 μIU/mL, associated with decreased free thyroxine and the presence of antithyroid antibodies, were enrolled in the study. The analysis encompassed clinical symptoms, thyroid and biochemical status, bone age, and imaging. Results: Twenty-six children were enrolled in the study. The mean age at diagnosis was 10.26 ± 3.3 years, with a female preponderance of 1.8:1. The most frequent symptom was growth impairment (77%) and weight gain (58%). Goiters were present in 42% of patients. Less common findings were pituitary hypertrophy (four patients) and hypertrichosis (three patients). Median values at the time of diagnosis were TSH 454.3 uIU/ml (295.0–879.4), anti-TPO antibodies 1,090 IU/ml, and anti-Tg antibodies 195 IU/ml. Anti-TSHR ab were evaluated only in six out of the 26 patients. The characteristic biochemical profile was correlated with the grade of hypothyroidism, and the strongest correlations were found with CBC parameters, lipid profile, aminotransferases, and creatine. Conclusion: In children with severe hypothyroidism, the most sensitive symptoms are growth arrest and weight gain despite the fact that, in some children, the auxological parameters at presentation could be within normal values for the population. The specific biochemical profile closely correlates to the severity of thyroid hormone deficiency and involves mostly erythropoiesis, liver function, and kidney function. Pituitary enlargement should be considered in each child with severe hypothyroidism. It is necessary to conduct prospective studies evaluating the actual frequency of anti-TSHR antibodies and pituitary enlargement in children with extremely high TSH, especially those presenting without goiters.

Severe haemophilia carries an increased risk of life-threatening intracranial haemorrhages. Studies in adult survivors show a relatively high percentage of anterior pituitary hypofunction reported as the most frequent complication. We report the case of isolated growth hormone deficiency in a boy...