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    Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency
    (Karger, 2021) Seven Menevşe, Tuba; Kendir Demirkol, Yasemin; Gürpınar Tosun, Büşra; Bayramoğlu, Elvan; Yıldız, Melek; Acar, Sezer; Erişen Karaca, Seda; Orbak, Zerrin; Önder, Asan; Söbü, Elif; Anık, Ahmet; Atay, Zeynep; Buğrul, Fuat; Demir, Korcan; Doğan, Durmuş; Emeksiz, Hamdi Cihan; Kırmızıbekmez, Heves; Özcan Murat, Nurhan; Yaman, Akan; Turan, Serap; Bereket, Abdullah; Güran, Tülay
    Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied. Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of children with non-CAH PAI. Design: Patients with CAH, adrenoleukodystrophy, autoimmune adrenal insufficiency or obvious syndromic PAI on clinical and biochemical assessment were excluded. Genetic analysis was performed using either targeted gene panel or whole-exome sequencing. Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Setting: Sixteen tertiary pediatric endocrinology clinics. Patients: Forty-one children (19 females, median age: 3 months, range: 0-8 years) with non-CAH PAI of unknown etiology. Results: A genetic diagnosis was obtained in 29 (68%) patients by targeted gene panel. Further molecular diagnosis could not be achieved by WES. The range of etiologies was: MC2R (n = 6), StAR (n = 6), NNT (n = 3), NR0B1 (n = 3), CYP11A1 (n = 2), MRAP (n = 2), SGPL1 (n = 2), ABCD1 (n = 1), AIRE (n = 1), AAAS (n = 1), HSD3B2 (n = 1). Steroid profiling demonstrated low levels in all adrenocortical steroid hormones irrespective of age and not varied among the genetic etiologies except two patients with new-onset symptoms of PAI due to homozygous c.518T>A(p.Leu173Gln) SGPL1, and hemizygous c.1772G>T(p.Arg591Leu) ABCD1 defects, and another patient with non-classic non-CAH PAI due to homozygous c.1351C>T (p.Arg451Trp) variant in CYP11A1. Compared to age-matched healthy control group in whom steroid hormone concentrations are physiologically low, the patient group had even lower steroid concentrations, most significantly in cortisone, cortisol, and corticosterone (P < 0.0001, area under the ROC curve: 0.96, 0.88, 0.87, respectively). Plasma cortisol<4 ng/ml, cortisone<11 ng/ml, and corticosterone<0.11 ng/ml had >95% specificity to segregate non-CAH PAI patients compared to control groups. Conclusion: Adrenocortical hormone profiles are highly sensitive for the diagnosis of non-CAH PAI, while, in contrast to CAH, they are unlikely to point out a specific molecular diagnosis. Targeted gene panel sequencing is an undisputed optimal approach in the molecular diagnosis of non-CAH PAI with low cost and high efficacy, while little additional benefit is expected from whole-exome sequencing. Further progress can be made, mainly by more collaboration and exchanging knowledge for delineation of rare causes of primary adrenal insufficiency.
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    Normal size of retropharyngeal lymph nodes in children on three dimensional magnetic resonance imaging
    (2024) Gözgeç, Elif; Durmuş, Hasan; Oğul, Hayri; Orbak, Zerrin; Tuğluoğlu Dalcı, Hatice Lamia
    Background: Age–specific normal measurements or specific size criteria for retropharyngeal lymph nodes in children have not been defined. Objective: We aimed to determine the normal measurements and distribution of retropharyngeal lymph nodes on three–dimensional magnetic resonance imaging (3–D MRI) in children. Materials and methods: In this retrospective study, we included 440 patients (213 girls) aged 0–17 years who were admitted to our center with seizures and headaches and underwent brain and neck MRI with T2–sampling perfection with application–optimized contrasts using different flip angle evolution sequences. We evaluated the number, laterality, and level distribution of lateral and medial group lymph nodes according to the skull base–cervical vertebrae. For both groups, we measured the short and long diameters of the largest lymph node in the axial plane and the craniocaudal diameter in the sagittal plane. The short/long diameter ratios and volumes were determined. Results: In 433 cases (98%), 1,554 lateral group lymph nodes were detected. Medial group lymph nodes were less common (7%). The lateral group was mostly bilateral, while the medial group was unilateral. Lateral group lymph nodes extended from the skull base–first cervical (C1) vertebral level to the C4, while the medial group extended from the C2 vertebral level to the C4. The mean axial short axis, axial long axis, and sagittal long axis diameters were 5.8 mm, 10.1 mm, and 15.5 mm for the lateral group and 3.8 mm, 7.6 mm, and 10.8 mm for the medial group, respectively. Conclusion: The findings of the study show that normally retropharyngeal lymph nodes are frequently seen in children and provide valuable information for lateral and medial lymph nodes depending on age. Graphical Abstract: (Figure presented.)
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    Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency
    (National Library of Medicine's (NLM) Medline, 2022) Seven Menevşe, Tuba; Kendir Demirkol, Yasemin; Gürpınar Tosun, Büşra; Bayramoğlu, Elvan; Yıldız, Melek; Acar, Sezer; Erişen Karaca, Seda; Orbak, Zerrin; Önder, Asan; Söbü, Elif; Anık, Ahmet; Atay, Zeynep; Buğrul, Fuat; Buluş, Ayşe Derya; Demir, Korcan; Doğan, Durmuş; Emeksiz, Hamdi Cihan; Kırmızıbekmez, Heves; Özcan Murat, Nurhan; Yaman, Akan; Turan, Serap; Bereket, Abdullah; Güran, Tülay
    CONTEXT: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. OBJECTIVE: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. METHODS: Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology. RESULTS: A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (P?