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    Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
    (GALENOS PUBL HOUSE, 2025) Güneş, SO; Kendirci, HNP; Ünal, E; Buluş, AD; Dündar, I; Sıklar, Z
    Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype. In the classical form, the external genitalia in females becomes virilized to varying degrees. If the disease is not recognized, salt wasting crises in the classical form may threaten life in neonates. Children experience accelerated somatic growth, increased bone age, and premature pubic hair in the simple virilizing form of classical 21-OHD. Female adolescents may present with severe acne, hirsutism, androgenic alopecia, menstrual irregularity or primary amenorrhea in the non-classical form. Diagnosis of CAH is made by clinical, biochemical and molecular genetic evaluation. In cases of 21-OHD, the diagnosis is based on the 17-hydroxyprogesterone (17-OHP) level being above 1000 ng/dL, measured early in the morning. In cases with borderline 17-OHP levels (200-1000 ng/dL), it is recommended to perform an adrenocorticotropic hormone (ACTH) stimulation test. Genotyping in cases with CAH should be performed if the adrenocortical profile is suspicious or if the ACTH stimulation test cannot be performed completely. After diagnosis, determining the carrier status of the parents and determining which parent the mutation was passed on from will help in interpreting the genetic results and determining the risk of recurrence in subsequent pregnancies.
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    MRI-Based Evaluation of Pituitary Size and Volume in Children with Idiopathic Growth Hormone Deficiency
    (WOLTERS KLUWER MEDKNOW PUBLICATIONS, 2025) Kaba, İ; Yanarateş, G; Kendirci, HNP
    Background:Growth hormone deficiency (GHD) is the most common cause of pathological short stature of endocrine origin. Among the causes of pathological short stature, pathologies in the hypothalamic-pituitary region, especially the pituitary gland, have an important place, and imaging the region with pituitary magnetic resonance imaging (MRI) is a frequently used method in the diagnosis process and guides the diagnosis and treatment process. It is known that hypoplasia or aplasia of the pituitary gland, which plays a role in the synthesis and release of many hormones in addition to GH, causes short stature. Aim:This study aims to evaluate pituitary size and volume as potential diagnostic markers in children with idiopathic growth hormone deficiency (IGHD) compared with healthy controls. Methods:The study included children who presented to our hospital's pediatric endocrinology outpatient clinic with complaints of short stature/growth retardation and was diagnosed with IGHD, for whom MRI of the pituitary had been performed. Pituitary MRI examinations were retrospectively reviewed to measure the, adenohypophysis height, anterior-posterior diameter, width, and volume, and these measurements were compared with those of an age- and gender-matched control group. Results:A total of 55 patients diagnosed with IGHD were included, with a mean chronological age of 9.8 +/- 3.4 years, of whom 58.2% (n = 32) were male. The control group consisted of 42 healthy children with a mean chronological age of 9.3 +/- 3.4 years, with 47.6% (n = 20) being male. No significant differences in age and gender were found between the groups (P = 0.523, P = 0.306, respectively). Although the adenohypophysis height, anterior-posterior diameter, width, and volume of patients with IGHD were lower than those in the control group, no statistical differences were observed between the two groups (P > 0.05). There were no differences in pituitary size and volume based on gender in either group (P > 0.05). A positive correlation was found between pituitary height, width, and volume with age, insulin-like growth factor-1 (IGF-1) standard deviations (SD), and insulin-like growth factor binding protein-3 (IGFBP-3) SD (P < 0.05), whereas no correlation was found between stimulated peak GH levels and pituitary size and volume (P > 0.05). Conclusion:We found that the size and volume of the adenohypophysis in patients with IGHD are not different from those of healthy peers; however, they showed a correlation particularly with IGF-1 and IGFBP-3 standard deviations.
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    Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence
    (GALENOS PUBL HOUSE, 2025) Kendirci, HNP; Ünal, E; Dündar, I; Buluş, AD; Güneş, SO; Sıklar, Z
    Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (CYP21A2). 21-hydroxylase deficiency has been divided into classical and non-classical forms. In the treatment of classical CAH, it is necessary to replace both glucocorticoid (GC) and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin. In addition to biochemical measurements to evaluate the adequacy of GC and mineralocorticoid treatment; growth rate, body weight, blood pressure and physical examination should be evaluated regularly. There is insufficient data regarding the use of continuous slow-release or modified-release hydrocortisone (HC) preparations and continuous subcutaneous HC infusion, additional/alternative treatment approaches, and cell-based therapies and gene editing technology in children with CAH. GC therapy is recommended in children with inappropriately early onset and rapidly progressing pubarche or accelerated bone age progression, and in adolescents with non-classical CAH (NCCAH) who have overt virilization. In patients with NCCAH, stress doses of HC is recommended for major surgery, trauma, or childbirth but only if the patient has a suboptimal cortisol response to the adrenocorticotropic hormone test. Here, members of the 'Adrenal Working Group' of 'The Turkish Society for Pediatric Endocrinology and Diabetes' present an evidence-based review with good practice points and recommendations for optimize treatment, and follow-up of children with CAH due to 21-hydroxylase deficiency in the light of the most recent evidence.