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Background: The coronavirus 19 (COVID-19) pandemic has affected all aspects of life, including the routine follow-up of patients with chronic illnesses. In this study, we aim to share our experience of telemedicine in our pediatric endocrinology clinic during the pandemic. Methods: We were able to continue caring for children with endocrine disorders using various communication methods such as e-mail and e-message. Results: A total of 267 patients received telemedicine care over the course of 608 contacts. The number of hospital visits and physical contact was effectively reduced to help protect against the COVID-19 infection. The patients were supported in terms of receiving their prescriptions and patient education also continued. No complications were observed. Conclusion: The advantages and disadvantages of telemedicine were discussed and consequently, we propose that telemedicine can be utilized to maintain and continue the care of children with endocrine disorders during and even after the pandemic. Further studies are needed to standardize this method for general use. [ABSTRACT FROM AUTHOR]

Purpose: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. Method: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated. Results: The age of the patients was between 13 and 25 years. All female patients were diagnosed with primary ovarian insufficiency (POI) based on amenorrhea and elevated gonadotropins. The ovary volumes in female patients were determined to be smaller than normal for their age through sonographic studies. Short stature associated with gonadal insufficiency was also observed in three patients. Conclusion: The HAX1 gene is important for ovarian development, in which a p.Trp44X mutation may cause POI in female patients. It is crucial to follow up and evaluate the gonadal functions of female patients in such cases. [ABSTRACT FROM AUTHOR]

Objectives: To determine causes of amenorrhea in adolescents with primary amenorrhea and to emphasize general approach to primary amenorrhea. Methods: Thirty-nine patients, evaluated between January 2007 and May 2011, were divided into normogonadotropic hypogonadism, hypergonadotropic hypogonadism and hypogonadotropic hypogonadism groups. Means of age, height, weight, body mass index and standard deviation scores, gonadotropin levels, and accompanying diseases were evaluated. Results: Mean values of age, height, height standard deviation score, weight and, weight standard deviation score were 15.54 ± 1.52 y. 152.0 ± 1.1 cm, −1.37 ± 1.3, 48.2 ± 14.3 kg, 0.96 ± 1.75, respectively. There were no statistical significances in the auxological parameters. Patients were distributed as 18 cases (46.1 %) with normogonadotropic hypogonadism, 12 cases (30.8 %) with hypergonadotropic hypogonadism, 9 cases (23.1 %) with hypogonadotropic hypogonadism. In the group of normogonadotropic hypogonadism, there were 6 patients with chronic diseases, 5 patients with insulin resistance, 4 patients with prolactinomas, 3 patients with müllerian agenesis. Of the hypergonadotropic hypogonadic patients, 3 were idiopathic primary ovarian failure, 3 were 46,XY disorders of sex development, 2 were Turner syndrome, 2 were ovarian insufficiency due to drug, one was 17 alpha-hydroxylase deficiency and one was autoimmune oophoritis. The group of hypogonadotropic hypogonadism included 5 patients with normosmic hypogonadism, 2 patients with constitutional delay of growth and puberty, 1 patient with panhypopituitarism and 1 patient with anosmic hypogonadism. Conclusions: Chronic diseases, prolactinoma, and insulin resistance may lead to hypogonadism without altering gonadotropin levels. Turner syndrome, primary ovarian failure, and autoimmune oophoritis should be investigated in cases with hypergonadotropic hypogonadism. 46, XY disorders of sex development also should be elucidated. Constitutional delay of growth and puberty should be distinguished from isolated hypogonadotropic hypogonadism. [ABSTRACT FROM AUTHOR]