Analysis of the scoliosis onset mechanisms for children and optimal rehabilitation interventions through aquatic activities

It is known, certainly, that it is much easier to form a correct attitude than to correct the vicious one, a reason that must determine the approach of prophylactic means of physical therapy and therapeutic swimming. The identification, at an early stage, of the etiological factors responsible for the installation of postural deficiencies, is a determining factor in the management of programs for their maintenance or recovery in children of prepubertal age. The study took place at the Constantinescu Mihai Physiotherapy Office of Suceava and at the Cornișa Botoșani Swimming Complex. It is known that the correct position is formed from childhood, and movement and exercise are the main factors of its construction. In this sense, the paper proposes kinetic recovery and therapeutic swimming programs in order to strengthen the postural status in children during growth and development. In this regard, we have set the following objectives: identification of children with vicious postural attitudes because of the overloads in the prepubertal period and analysis of the scoliosis mechanisms in children of prepubertal age on a vulnerable somato-functional status. Keywords: therapeutic swimming, evaluation, scoliosis, children, analysis,

THYROID DISEASE IN THE LATE OBSERVATION PERIOD UPON CHEMO- AND RADIOTHERAPY IN CHILDREN-SURVIVORS OF ACUTE LYMPHOBLASTIC LEUKEMIA

Objective: to assess the thyroid disease in the late observation period in children who had received chemo- and radiotherapy for the acute lymphoblastic leukemia (ALL) taking into account gender, age period and disease subtype. Materials and methods. The incidence and nature of thyroid disease (hypothyroidism, thyroiditis, and thyroid cancer) were studied in children-survivors of acute lymphoblastic leukemia (ALL) being in remission from 6 to 25 years. The distribution of patients by leukemia subtypes was as follows: «common» – 67.4 %, pre-B – 23.9 %, pro-B and T-cell – 4.3 %. Children had been receiving chemo- and radiotherapy according to the protocol. Regarding the age of patients at the time of ALL diagnosis the prepubertal, pubertal and postpubertal periods were taken into account. The endocrine diseases in family history, body weight at birth, serum content of free thyroxine, pituitary thyroidstimulating hormone, cortisol, iron, ferritin and thyroperoxidase antibodies were evaluated and assayed. Results. Thyroid disease in children was emerging in the first 2–3 years after the ALL treatment with an incidence of 22.8 % (hypothyroidism – 14.1 %, autoimmune thyroiditis – 7.6 %, papillary cancer – 1.1 %). Seven children in this group had received radiotherapy (12-18 Gy doses) on the central nervous system (CNS). No correlation was found between the radiation exposure event itself, radiation dose to the CNS and thyroid disease in the long-term follow-up period. Thyroid cancer had developed in a child 11 years upon chemo- and radiotherapy. Hypothyroidism was more often diagnosed in the patients of prepubertal age (rs = 0.49). There were endocrine diseases in the family history in about a half of children, being significantly higher than in the general sample (р < 0.05). The body weight at birth of a child who had later developed hypothyroidism was less than in children having got thyroiditis (rs = 0.57). Conclusions. Disorders in endocrine regulation and of thyroid in particular can affect the prognosis of blood cancer course in the long-term follow-up in children, especially in prepubertal age, which requires systematic supervision by hematologist and endocrinologist. Key words: children, acute lymphoblastic leukemia, chemotherapy, radiotherapy, thyroid cancer, hypothyroidism, thyroiditis, late period.

Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries

ObjectivesThere are some variations in the practice of puberty induction between different regions; however, data from Arab countries are lacking. We aimed to survey the practice of pediatric endocrinologists in Arab countries on the timing and regimen for puberty induction in girls and boys with hypogonadism.MethodsAn online questionnaire was emailed to physicians registered in the Arab Society for Paediatric Endocrinology and Diabetes.ResultsIn total, 106 replies from 17 countries were received. In non Turner syndrome (TS) girls, puberty was induced by 49.4% of participants at 12–13 years and by 32.5% at ≥14 years. Ethinyl estradiol and conjugated estrogen were the most popular preparations used (29.7 and 16.6%, respectively). Of the participants, 60% introduce progesterone either at 2–3 years after starting estrogen or following a significant breakthrough bleeding on estrogen. In girls with TS, 84.2% of participants prescribed estrogen to those aged 11 years and older (51.5% at 11–12 years) and 5.3% prescribed it to those at the prepubertal age. In boys, 57.3% of participants induce at ≥14 years, 80.6% use intramuscular testosterone and 46.5% start with 50 mg/kg/month. Human chorionic gonadotropin is more used in non-Gulf Arab countries (18.2 vs. 2.9%; p 0.036) with a trend of using oral testosterone undecanoate in Gulf states (12.2 vs. 2.0%; p 0.051).ConclusionsWe describe the approach to puberty induction in boys and girls among pediatric endocrinologists in Arab countries. The observed variation in practice would be useful in developing regional consensus guidelines on puberty induction in children with hypogonadism.

ASYMPTOMATIC LABIAL FUSION DIAGNOSED DURING LABOUR -(A CASE REPORT)

Labial fusion is when the labia minora of the vulva fuse together. This most commonly occurs in prepubertal age group(0.6%-5%).(1) This condition rarely occurs in adults and even in adults it is seen in post menopausal women and may result in urinary incontinence.(2) It is extremely rare in women of reproductive age group and only a few cases have been reported so far.(3) We here report a case of a 25 year old female with asymptomatic labial fusion with no history of voiding difficulty, dyspareunia who presented to us at term in labour.

OR15-03 High Prevalence of Gene Variants in Boys of Prepubertal Age with Clinical Suspicion of Central Hypogonadism and Low AMH

Introduction: In boys of prepubertal age, the diagnosis of central hypogonadism may be difficult to ascertain since gonadotropins and testosterone are normally low. Sertoli cell markers, like AMH and inhibin B, may be useful. In recent years, with the development of next generation sequencing (NGS) technology, the number of genes associated with central hypogonadism has had an exponential increase. However, even with these advanced techniques, the gene variants with potential pathogenicity can be found at present in only 30-50% of the patients. Hypothesis of the study: Low serum AMH is an appropriate screening biomarker to select patients for NGS, in order to make a genetic diagnosis in boys of prepubertal age with suspected central hypogonadism. Patients and methods: All patients aged 1-10 yr referred between 2001 and 2018 with clinical suspicion of central hypogonadism (micropenis and cryptorchidism and/or microorchidism), with low serum AMH (&lt;10th centile) were included. Serum AMH was determined by ELISA (Beckman-Coulter), and LH, FSH and testosterone (T) by ECLIA (Roche). NGS was performed with the TruSight™ One Sequencing Panel in a NextSeq® 500 sequencer (Illumina). Results are expressed as medians (range). Results: 13 patients were included. Age at first visit was 4.4 (0.1-9.2) yr. Cryptorchidism was present in all of them, micropenis in 10 and microorchidism in 11. Orchiopexy was required in 11 boys and the other 2 responded to hCG treatment. 4 patients had olfactory disturbances, 1 had sensory deafness and 1 had piebaldism. 2 patients had a family history of olfactory disturbances and/or central hypogonadism. 7 patients could be followed up to pubertal age, and the diagnosis of central hypogonadism was clinically confirmed. At age 6.1 yr (1.2-10), AMH was 159 pmol/L (65-363), LH was &lt;0.1 IU/L in all, FSH was 0.61 IU/L (&lt;0.1-1.9). 17 variants in 9 genes associated with central hypogonadism were found in 10 of 13 patients. 5 boys had 1 gene variant, while 4 had 2 gene variants and 1 had 3 gene variants indicating probable oligogenicity, in the following genes: FGFR1 (n:4), CHD7 (n:3), PROKR2 (n:2), SOX10 (n:2), AXL (n:2), HS6ST1 (n:1), AMHR2 (n:1), NSMF (n:1), DCC (n:1). Conclusion: A high prevalence of gene variants was found in boys of prepubertal age with a suspicion of central hypogonadism based on micropenis and cryptorchidism and/or microorchidism with low serum AMH.

Cryopreservation of ovarian tissue in girls with oncological diseases: a multidisciplinary approach

The issues concerning quality of life are becoming increasingly important with the improvement of survival rates in children with cancer. The possibility of minimizing the toxicity of antitumor therapy for various organs and systems without reducing the effectiveness of specific therapy, as well as the development of preventive measures, is now an important task of medical specialists. Gonadal toxicity is a frequent adverse event that negatively affects both the somatic and psychological and emotional state of the cured patients. The only prospect of reproductive function preserving in a cohort of prepubertal girls with a high risk of premature ovarian failure is the ovarian tissue cryopreservation. The main goal of this publication is to emphasize the importance of the reproductive health problem of girls with oncological diseases, with a description of the current data of international literature on the prospects of ovarian tissue cryopreservation in order to preserve fertility. Another goal is to present a multidisciplinary strategy for the management of prepubertal age patients with oncological disease within the framework of the Oncological Fertility Project at Almazov National Medical Research Center. Based on the data of Russian and international literature, as well as existing guidelines and recommendations on reproductive health, a single algorithm for selecting patients has been developed, considering the expected gonadal toxicity for the use of the ovarian cryopreservation method in prepubertal girls. Carrying out of all the steps is possible in the optimal terms of antitumor therapy in the conditions of one hospital with observance of the stages of medical aid provision. The developed algorithm will allow to identify patients of prepubertal age, requiring the use of modern possibilities of reproductive technologies. In long-term date we are planning to evaluate the effectiveness of the orthotopic reimplantation technique for cryopreserved ovarian tissue in order to realize the reproductive function. A multidisciplinary team of specialists and the possibilities of the federal center fully allow to realize the Oncofertility Program in daily practice for girls and young women who needs to undertake gonadotoxic treatment.