Publications by authors named "Niels Holtum Birkebaek"

Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development.

Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development.

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Context: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by congenital factors.

Objective: We aimed to estimate the national incidence of cCPHD diagnosed before age 18 years and in subgroups.

Methods: Patients with cCPHD were identified in the Danish National Patient Registry and Danish hospital registries in the period 1996-2020.

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Article Synopsis
  • Standard treatment for hypophosphatemic rickets (HR) involves oral phosphate tablets and vitamin D, but the rapid absorption of these tablets requires multiple daily doses, which can lead to fluctuations in phosphate levels and other complications.
  • A study was conducted with seven female patients to compare the effects of phosphorus from milk and cheese to traditional phosphate tablets, using a crossover design over multiple treatment sessions.
  • Results showed that milk, and to a lesser extent cheese, led to reduced parathyroid hormone levels and more stable phosphate levels compared to phosphate tablets, suggesting that milk might be a better phosphorus source for managing HR.
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Biallelic variants in HARS2 have been associated with Perrault syndrome, characterized by sensorineural hearing impairment and premature ovarian insufficiency. Here we report three novel families, compound heterozygous for missense variants in HARS2 identified by next-generation sequencing, namely c.172A > G (p.

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Background: We assessed the associations between metabolic control and adherence and a broad range of adolescent and family characteristics (e.g., gender, family structure), treatment-related variables (e.

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Background: Premature thelarche (PT) seems to be increasing and it is difficult to differentiate its early stages from precocious puberty (PP). Clinical and biochemical parameters are warranted to differentiate the two diagnoses.

Methods: One hundred ninety-one girls aged 0.

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The nation-wide Danish Registry of Childhood Diabetes and associated biological bank were established in 1996. All children diagnosed with insulin-dependent diabetes mellitus (IDDM) under the age of 15 years are included. In the period 1996-2004 the incidence of IDDM in childhood and adolescence (0-15 years) has increased by 3.

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Growth monitoring is essential for the evaluation of health in children. Growth and final height have changed over time, the secular trend, and therefore updated growth curves are important. In this article the growth curves in use in Denmark are reviewed.

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Objectives: To investigate how frequently adrenal function fails to recover after corticosteroid therapy in children with acute lymphoblastic leukemia and to explore the clinical impact of slow adrenal recovery without steroid substitution.

Study Design: Low-dose (1 microg) adrenocorticotropic hormone tests were performed before and after steroid courses and during infectious episodes in 24 children. Test results were not available during the study.

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Objective: To objectively define criteria for intracranial optic nerve (ON) size in ON hypoplasia (ONH) on magnetic resonance imaging (MRI) scans.

Study Design: Intracranial ON sizes from MRI were compared between 46 children with ONH diagnosed by ophthalmoscopy (group 1, isolated ONH, 8 children; and group 2, ONH associated with abnormalities of the hypothalamic-pituitary axis and septum pellucidum, 38 children) and children with multiple pituitary hormone deficiency (group 3, multiple pituitary hormone deficiency, 14 children), isolated growth hormone deficiency (group 4, isolated growth hormone deficiency, 15 children), and idiopathic short stature (group 5, idiopathic short stature, 10 children). Intracranial ON size was determined by the cross-sectional area, calculated as [pi x (1/2) height x (1/2) width].

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