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Article ; Online: Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark-A National Observational Study.

Jakobsen, Louise Kjersgaard / Jensen, Rikke Beck / Birkebæk, Niels Holtum / Hansen, Dorte / Christensen, Ann-Margrethe Rønholt / Bjerrum, Maja Carsting / Christesen, Henrik Thybo

The Journal of clinical endocrinology and metabolism

2023 Volume 108, Issue 10, Page(s) 2475–2485

Abstract: 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.: ... ...

Abstract	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. Hospital files were reviewed and incidences calculated using background population data. Incidence was the main outcome measure. Results: We identified 128 patients with cCPHD; 88 (68.8%) were males. The median (range) age at diagnosis was 6.2 (0.01-19.0) years. The median (25th;75th percentile) number of hormone deficiencies at diagnosis was 3 (3; 4) at <1 year vs 2 (2; 2) at 1-17 years, P < .0001. Abnormal pituitary magnetic resonance imaging findings were seen in 70.3% (83/118). For those born in Denmark aged <18 years at diagnosis (n = 116/128) the estimated national incidence (95% CI) of cCPHD was 10.34 (7.79-13.72) per 100 000 births, with an annual incidence rate of 5.74 (4.33-7.62) per million. In subgroup analysis (diagnosis <1 vs 1-17 years), the incidence was highest in the 1-17 years subgroup, 7.97 (5.77-11.00) vs 1.98 (1.39-2.84) per 100 000 births, whereas the annual incidence rate was highest at <1 year, 19.8 (13.9-28.4) vs 4.69 (3.39-6.47) per million births. Conclusion: cCPHD had the highest incidence rate and the most hormone deficiencies in those diagnosed at <1 year. The incidence was highest in the 1-17 years age group, underscoring the need for multiple pituitary hormone investigations throughout childhood and adolescence in children with only 1 hormone deficiency.
MeSH term(s)	Male ; Child ; Female ; Adolescent ; Humans ; Infant ; Child, Preschool ; Incidence ; Hypopituitarism/diagnosis ; Hypopituitarism/epidemiology ; Hypopituitarism/congenital ; Pituitary Hormones ; Denmark/epidemiology
Chemical Substances	Pituitary Hormones
Language	English
Publishing date	2023-04-12
Publishing country	United States
Document type	Observational Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgad198
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Article ; Online: Multi-informant path models of the influence of psychosocial and treatment-related variables on adherence and metabolic control in adolescents with type 1 diabetes mellitus.

Kristensen, Lene Juel / Birkebaek, Niels Holtum / Mose, Anne Hvarregaard / Berg Jensen, Morten / Thastum, Mikael

PloS one

2018 Volume 13, Issue 9, Page(s) e0204176

Abstract: 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.g., disease duration, treatment modality), and ... ...

Abstract	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.g., disease duration, treatment modality), and psychosocial factors (e.g., symptoms of depression and anxiety, parental support, self-efficacy) in a nationwide study of Danish adolescents (age 12-17 years) with type 1 diabetes mellitus (T1DM). Methods: Sixty-four percent of invited families participated by completing a survey and providing a blood sample. Two path models of associations between generic and diabetes-related family factors, adolescent self-efficacy, emotional difficulties, and metabolic control and adherence were tested, one for adolescents and one for caregivers. Demographic variables were included as covariates. Results: Both path models demonstrated a satisfying model fit. In both models, metabolic control was associated with adherence, age, and T1DM duration. In the adolescent model, metabolic control was also related to treatment modality, single-parent household, caregiver non-support, and anxiety, whereas in the caregiver model metabolic control was associated with family conflict and caregiver support. In both models, adherence was related to age, duration, treatment modality, family conflict, caregiver support, family functioning, and emotional difficulties of the adolescent. In the adolescent model, adherence was also related to adolescent self-efficacy, whereas in the caregiver model adherence was associated with adolescent gender and caregiver non-support and support. Adolescent self-efficacy, emotional well-being, and difficulties related to adolescent/caregiver interaction appeared to be particularly important, as indicated by their stronger association with adherence and/or metabolic control. Conclusion: The results highlight the value of applying a multi-informant approach to address the psychosocial well-being of adolescents with diabetes in a large national sample. Self-efficacy, emotional, and family-related difficulties are important aspects to address in both clinical care and future research regarding adolescents with T1DM.
MeSH term(s)	Adolescent ; Caregivers/psychology ; Child ; Diabetes Mellitus, Type 1/metabolism ; Diabetes Mellitus, Type 1/psychology ; Female ; Humans ; Male ; Medication Adherence ; Models, Biological ; Parents
Language	English
Publishing date	2018-09-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0204176
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Article: Increasing incidence of premature thelarche in the Central Region of Denmark - Challenges in differentiating girls less than 7 years of age with premature thelarche from girls with precocious puberty in real-life practice.

Sømod, Mia Elbek / Vestergaard, Esben Thyssen / Kristensen, Kurt / Birkebæk, Niels Holtum

International journal of pediatric endocrinology

2016 Volume 2016, Page(s) 4

Abstract: 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 ... ...

Abstract	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 0.5-7 years were included. Diagnoses were validated and the girls were categorized to the groups PP (n = 27) and PT (n = 164). Anthropometry, Tanner stages, ethnicity, bone age, and biochemistry, were recorded. Conventional variables for diagnosing PP were compared between the groups at time of referral to identify parameters predictive for the diagnosis. Results: The referral rate of PT increased from 1998-2013. Girls with PT and PP differed with regards to age at referral, body mass index standard deviation scores (BMISDS), ethnicity, bone age advancement, basal luteinizing hormone (LH), gonadotropin releasing hormone (GnRH) stimulated LH and follicle stimulating hormone (FSH), basal and stimulated LH/FSH ratio, and sex-hormone binding globulin (SHBG). Apart from SHBG there was considerable overlap of the variables between the PT and the PP groups. Conclusions: First, the incidence of PT appears to increase. Second, SHBG was the variable which best discriminated PT from PP. Third, stimulated LH in 1-3 years old girls with PT is similar to stimulated LH in 5-7 years old girls with PP. Age, BMISDS, ethnicity, bone age, stimulated gonadotropins and LH/FSH and SHBG are all useful variables for differentiating PP from PT. However normative data for stimulated LH and FSH in the age group 0.5-7 years are warranted.
Language	English
Publishing date	2016-02-22
Publishing country	England
Document type	Journal Article
ZDB-ID	2528691-2
ISSN	1687-9856 ; 1687-9848
ISSN (online)	1687-9856
ISSN	1687-9848
DOI	10.1186/s13633-016-0022-x
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Article ; Online: Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study.

Schröder, Mariska A M / Neacşu, Mihaela / Adriaansen, Bas P H / Sweep, Fred C G J / Ahmed, S Faisal / Ali, Salma R / Bachega, Tânia A S S / Baronio, Federico / Birkebæk, Niels Holtum / de Bruin, Christiaan / Bonfig, Walter / Bryce, Jillian / Clemente, Maria / Cools, Martine / Elsedfy, Heba / Globa, Evgenia / Guran, Tulay / Güven, Ayla / Amr, Nermine Hussein /

Janus, Dominika / Taube, Nina Lenherr / Markosyan, Renata / Miranda, Mirela / Poyrazoğlu, Şükran / Rees, Aled / Salerno, Mariacarolina / Stancampiano, Marianna Rita / Vieites, Ana / de Vries, Liat / Yavas Abali, Zehra / Span, Paul N / Claahsen-van der Grinten, Hedi L

European journal of endocrinology

2023 Volume 189, Issue 4, Page(s) 460–468

Abstract: 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 ... ...

Abstract	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. Design and participants: This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. Results: TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. Conclusions and relevance: A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life.
MeSH term(s)	Adolescent ; Humans ; Male ; Adrenal Hyperplasia, Congenital/genetics ; Adrenal Rest Tumor/epidemiology ; Adrenal Rest Tumor/etiology ; Cohort Studies ; Testicular Neoplasms/epidemiology ; Testicular Neoplasms/complications ; Child
Language	English
Publishing date	2023-10-30
Publishing country	England
Document type	Multicenter Study ; Journal Article
ZDB-ID	1183856-5
ISSN	1479-683X ; 0804-4643
ISSN (online)	1479-683X
ISSN	0804-4643
DOI	10.1093/ejendo/lvad143
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Article: Milk Products in the Treatment of Hypophosphatemic Rickets: A Pilot Study.

Jørgensen, Cecilie Siggaard / Poulsen, Vibe Morgana Lund / Sandahl, Mads / Underbjerg, Line / Kristensen, Simon Bang / Piec, Isabelle / Beck-Nielsen, Signe Sparre / Rejnmark, Lars / Birkebæk, Niels Holtum

International journal of endocrinology and metabolism

2019 Volume 17, Issue 4, Page(s) e91454

Abstract: Background: Standard treatment of hypophosphatemic rickets (HR) is oral phosphate tablets plus vitamin D. Due to the rapid absorption of phosphate tablets, frequent daily doses are necessary, which is cumbersome and may cause fluctuations in plasma ... ...

Abstract	Background: Standard treatment of hypophosphatemic rickets (HR) is oral phosphate tablets plus vitamin D. Due to the rapid absorption of phosphate tablets, frequent daily doses are necessary, which is cumbersome and may cause fluctuations in plasma phosphate and risk of secondary hyperparathyroidism. It was hypothesized that phosphate from milk or cheese is less rapidly absorbed, and reduces fluctuations in plasma phosphate. Objectives: The current randomized, multiple crossover study aimed at investigating if an equivalent phosphate dose given as milk or cheese is comparable to phosphate tablets in patients with HR. Methods: Seven females with HR were included. They went through three different four-day treatment sessions of either oral phosphate tablets consisting of 800 mg elemental phosphorus divided into five doses over the day or an equivalent phosphorus dose ingested as skimmed milk or cheese divided over five daily doses. Blood and urine samples were taken from patients after each treatment session. Except the usual doses of vitamin D, no phosphate or calcium-modifying treatments were allowed. Statistical analyses were performed using mixed models. Results: Treatment feasibility was independent of the phosphorus source. The study demonstrated reduced plasma levels of parathyroid hormone (PTH), reduced fluctuations in plasma phosphate and plasma PTH, and reduced renal phosphate excretion when ingesting phosphorus supplementation as milk compared to phosphate tablets. The same trend was observed when administering phosphorus as cheese, though not statistically significant. Conclusions: Phosphorus supplements can be administered as phosphate tablets, milk or cheese when given in equimolar doses. The current study findings indicated that milk may be superior to phosphate tablets as the phosphate source in patients with HR.
Language	English
Publishing date	2019-10-06
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2744447-8
ISSN	1726-9148 ; 1726-913X
ISSN (online)	1726-9148
ISSN	1726-913X
DOI	10.5812/ijem.91454
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Article ; Online: Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Karstensen, Helena Gásdal / Rendtorff, Nanna Dahl / Hindbæk, Lone Sandbjerg / Colombo, Roberto / Stein, Amelie / Birkebæk, Niels Holtum / Hartmann-Petersen, Rasmus / Lindorff-Larsen, Kresten / Højland, Allan Thomas / Petersen, Michael Bjørn / Tranebjærg, Lisbeth

European journal of medical genetics

2019 Volume 63, Issue 3, Page(s) 103733

Abstract: 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 ... ...

Abstract	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.Lys58Glu) and c.448C > T (p.Arg150Cys) identified in two sisters aged 13 and 16 years and their older brother, c.448C > T (p.Arg150Cys) and c.980G > A (p.Arg327Gln) identified in a seven year old girl, and finally c.137T > A (p.Leu46Gln) and c.259C > T (p.Arg87Cys) identified in a 32 year old woman. Clinically, all five individuals presented with early onset, rapidly progressive hearing impairment. Whereas the oldest female fulfilled the criteria of Perrault syndrome, the three younger females, aged 7, 13 and 16, all had apparently normal ovarian function, apart from irregular menstrual periods in the oldest female at age 16. The present report expands the list of HARS2 variants and helps gain further knowledge to the phenotype.
MeSH term(s)	Adolescent ; Adult ; Amino Acyl-tRNA Synthetases/genetics ; Child ; Female ; Gonadal Dysgenesis, 46,XX/genetics ; Gonadal Dysgenesis, 46,XX/physiopathology ; Hearing Loss/genetics ; Hearing Loss/physiopathology ; Hearing Loss, Sensorineural/genetics ; Hearing Loss, Sensorineural/physiopathology ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation, Missense ; Pedigree ; Primary Ovarian Insufficiency/genetics ; Whole Exome Sequencing
Chemical Substances	Amino Acyl-tRNA Synthetases (EC 6.1.1.-) ; HARS2 protein, human (EC 6.1.1.21)
Language	English
Publishing date	2019-08-23
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2019.103733
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Article: Clinical impact of corticosteroid-induced adrenal suppression during treatment for acute lymphoblastic leukemia in children: a prospective observational study using the low-dose adrenocorticotropin test.

Rix, Mariane / Birkebaek, Niels Holtum / Rosthøj, Steen / Clausen, Niels

The Journal of pediatrics

2005 Volume 147, Issue 5, Page(s) 645–650

Abstract: 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 ... ...

Abstract	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. Results: All 13 patients tested before treatment had normal adrenal responses. Adrenal suppression was found in 8 (47%) of 17 patients 5 days after discontinuation of a 5-week induction course of prednisolone and in 1 (20%) of 5 patients 7 days after a 3-week intensification course of dexamethasone, both courses being tapered over 9 days, as well as in all 13 patients tested 2 days after a 1-week prednisolone course. Clinically significant manifestations of adrenal suppression were noted in 3 (12%) patients. Of 204 scheduled tests, 131 were performed. Conclusions: High-dose glucocorticoid therapy may cause adrenal suppression lasting more than 1 week in children with acute lymphoblastic leukemia, even after tapering the dose. We suggest steroid replacement during stress episodes within 1 to 2 weeks after discontinuation and thereafter testing adrenal function selectively in accordance with symptoms.
MeSH term(s)	Adolescent ; Adrenal Cortex Function Tests ; Adrenal Insufficiency/chemically induced ; Antineoplastic Agents, Hormonal/administration & dosage ; Antineoplastic Agents, Hormonal/adverse effects ; Child ; Child, Preschool ; Dexamethasone/administration & dosage ; Dexamethasone/adverse effects ; Female ; Humans ; Hydrocortisone/blood ; Infant ; Infection/blood ; Infection/drug therapy ; Male ; Observation ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Prednisolone/administration & dosage ; Prednisolone/adverse effects ; Prospective Studies
Chemical Substances	Antineoplastic Agents, Hormonal ; Dexamethasone (7S5I7G3JQL) ; Prednisolone (9PHQ9Y1OLM) ; Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2005-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2005.06.006
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Article ; Online: Anbefaling af ens vaekstkurver i Danmark.

Birkebaek, Niels Holtum / Kamperis, Konstantinos / Main, Katharina Maria / Johannesen, Jesper / Naerå, Rune Weis / Hertel, Niels Thomas

Ugeskrift for laeger

2007 Volume 169, Issue 18, Page(s) 1669–1671

Abstract: 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 ... ...

Title translation	Recommendation for identical growth curves in Denmark.
Abstract	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. In 2003 two different growth curves with older reference populations were used for growth evaluation after the neonatal period, and five different growth curves were in use for neonatal growth evaluation. To make growth evaluation more homogeneous we recommend one updated Scandinavian growth curve for child growth monitoring in Denmark.
MeSH term(s)	Body Height ; Child ; Child Development ; Child, Preschool ; Denmark ; Female ; Growth ; Humans ; Infant ; Infant, Newborn ; Male ; Reference Values ; Sweden
Language	Danish
Publishing date	2007-04-30
Publishing country	Denmark
Document type	Comparative Study ; English Abstract ; Journal Article
ZDB-ID	124102-3
ISSN	1603-6824 ; 0041-5782
ISSN (online)	1603-6824
ISSN	0041-5782
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Article ; Online: Status for de første ti år med Dansk Register for Børne- og Ungdomsdiabetes.

Højberg, Anne Søe / Hansen, Dorte / Svensson, Jannet / Johannesen, Jesper / Eising, Stefanie / Birkebaek, Niels Holtum

Ugeskrift for laeger

2007 Volume 169, Issue 22, Page(s) 2106–2108

Abstract: 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 ... ...

Title translation	First 10 years with the Danish Registry of Childhood Diabetes.
Abstract	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 3.5% per year and was 25.7/100.000 in 2004. The average measured glycosylated haemoglobin (HbA1c) value has decreased over the period and was 8.4% in 2005. A registry of type 1 diabetes with a high degree of completeness is feasible, provides useful information about the quality of patient care and is a valuable resource for research.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Denmark/epidemiology ; Diabetes Complications/epidemiology ; Diabetes Mellitus, Type 1/blood ; Diabetes Mellitus, Type 1/drug therapy ; Diabetes Mellitus, Type 1/epidemiology ; Glycated Hemoglobin A/analysis ; Humans ; Hypoglycemic Agents/administration & dosage ; Incidence ; Insulin/administration & dosage ; Quality Assurance, Health Care ; Registries/standards
Chemical Substances	Glycated Hemoglobin A ; Hypoglycemic Agents ; Insulin
Language	Danish
Publishing date	2007-05-28
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	124102-3
ISSN	1603-6824 ; 0041-5782
ISSN (online)	1603-6824
ISSN	0041-5782
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Article: Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature.

Birkebaek, Niels Holtum / Patel, Leena / Wright, Neville Bryce / Grigg, John Russell / Sinha, Smeeta / Hall, Catherine Margaret / Price, David Anthony / Lloyd, Ian Christopher / Clayton, Peter Ellis

The Journal of pediatrics

2004 Volume 145, Issue 4, Page(s) 536–541

Abstract: 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 ... ...

Abstract	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]. Results: Groups 1 and 2 had lower intracranial ON size than did groups 3, 4, and 5 (P < .001). No patients in groups 3 through 5 who had MRI after 12 months of age (when 95% adult size of ONs is attained) had ONs <2.9 mm 2 . Visual acuity correlated significantly with ON size (P < .01). Conclusions: Magnetic resonance imaging of the ONs with cross-sectional area <2.9 mm 2 in a short child more than 12 months of age, with or without hypothalamic-pituitary axis abnormalities, confirms the clinical diagnosis of ONH.
MeSH term(s)	Adolescent ; Body Height ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Human Growth Hormone/deficiency ; Humans ; Hypopituitarism/pathology ; Infant ; Magnetic Resonance Imaging ; Male ; Optic Nerve/abnormalities ; Optic Nerve/pathology ; Pituitary Hormones/deficiency ; Septo-Optic Dysplasia/pathology
Chemical Substances	Pituitary Hormones ; Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2004-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2004.06.041
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Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito