Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

Garne, Ester; Rißmann, Anke; Addor, Marie Claude; Barišić, Ingeborg; Bergman, Jorieke E. H.; Braz, Paula; Cavero‐Carbonell, Clara; Draper, Elizabeth S; Gatt, Miriam; Haeusler, Martin; Klungsøyr, Kari; Kurinczuk, Jennifer J; Lelong, Nathalie; Luyt, Karen; Lynch, Christopher J.; O’Mahony, Mary; Mokoroa, Olatz; Nelen, Vera; Neville, Amanda J.; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rouget, Florence; Schaub, Bruno; Tucker, David; Verellen‐Dumoulin, Christine; Wellesley, Diana; Wiesel, Awi; Zymak‐Zakutnia, Nataliia; Lanzoni, Monica; Morris, Joan K.

doi:10.1016/j.ejmg.2018.05.010

Cited by 34 publications

(43 citation statements)

References 22 publications

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“…Both rare congenital diseases are heterogeneous genetic and clinical disorders. Septo-optic dysplasia in Europe has an incidence of 1.9–2.5 cases per 10,000 births (Garne et al, 2018 ), while the prevalence of holoprosencephaly is 1 case in 10,000 births (Leoncini et al, 2008 ; Kauvar and Muenke, 2010 ; Yi et al, 2019 ; see a systematic review in Orioli and Castilla, 2010 ).…”

Section: Alterations Of Genes Implicated In Hypothalamic Development mentioning

confidence: 99%

Developmental Genes and Malformations in the Hypothalamus

Dı́az

Puelles

2020

Front. Neuroanat.

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The hypothalamus is a heterogeneous rostral forebrain region that regulates physiological processes essential for survival, energy metabolism, and reproduction, mainly mediated by the pituitary gland. In the updated prosomeric model, the hypothalamus represents the rostralmost forebrain, composed of two segmental regions (terminal and peduncular hypothalamus), which extend respectively into the non-evaginated preoptic telencephalon and the evaginated pallio-subpallial telencephalon. Complex genetic cascades of transcription factors and signaling molecules rule their development. Alterations of some of these molecular mechanisms acting during forebrain development are associated with more or less severe hypothalamic and pituitary dysfunctions, which may be associated with brain malformations such as holoprosencephaly or septo-optic dysplasia. Studies on transgenic mice with mutated genes encoding critical transcription factors implicated in hypothalamic-pituitary development are contributing to understanding the high clinical complexity of these pathologies. In this review article, we will analyze first the complex molecular genoarchitecture of the hypothalamus resulting from the activity of previous morphogenetic signaling centers and secondly some malformations related to alterations in genes implicated in the development of the hypothalamus.

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Section: Alterations Of Genes Implicated In Hypothalamic Development mentioning

confidence: 99%

Developmental Genes and Malformations in the Hypothalamus

Dı́az

Puelles

2020

Front. Neuroanat.

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“…Some registries added the fourth digit code from British Associations extension of ICD-10 for Q043 for further specification (agyria/lissencephaly, microgyria/polygyria, hydranencephaly, reduction anomalies of cerebrum, reduction anomalies of cerebellum). A previous article has reported data from the cases with septo-optic dysplasia,11 which for completeness are also included in this article. Not all registries contributed data for all 10 years.…”

Section: Methodsmentioning

confidence: 99%

“…A previous study of septo-optic dysplasia11 found evidence that some registries were under-reporting cases and developed a method to estimate the prevalence adjusting for this under-reporting. In brief, for each separate anomaly, the average prevalence among the 15 registries with the highest prevalence is calculated using a random-effects meta-analysis.…”

Section: Methodsmentioning

confidence: 99%

“…EUROCAT is a European network of population-based registries for the epidemiological surveillance of congenital anomalies (http://www.eurocat-network.eu/). 4 5 There are many EUROCAT publications on neural tube defects,6–8 microcephaly,9 hydrocephaly10 and septo-optic dysplasia 11. Individual EUROCAT registries have published data on corpus callosum anomalies in Emilia Romagna,12 schizencephaly13 and holoprosencephaly14 in the United Kingdom.…”

Section: Introductionmentioning

confidence: 99%

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Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

et al. 2019

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ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe.Design and settingCongenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births).ParticipantsAll birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014.Main outcome measuresPrevalence, proportion of associated non-cerebral anomalies, prenatal detection rate.Results4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all cases were liveborn, 3% were fetal deaths and 41% resulted in TOPFA. Forty-eight per cent of all cases were an isolated cerebral anomaly, 25% had associated non-cerebral anomalies and 27% were chromosomal or part of a syndrome (genetic or teratogenic). The prevalence excluding genetic or chromosomal conditions increased by 2.4% per annum (95% CI: 1.3% to 3.5%), with the increases occurring only for congenital malformations of the corpus callosum (3.0% per annum) and ‘other reduction deformities of the brain’ (2.8% per annum).ConclusionsOnly half of the cases were isolated cerebral anomalies. Improved prenatal and postnatal diagnosis may account for the increase in prevalence of congenital cerebral anomalies from 2005 to 2014. However, major differences in prevalence remain between regions.

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“…However, in retrospective regional study conducted in Canada the annual incidence reached even 53 in 100 000. [124], [125] The etiology of SOD is not fully explained, it is thought that it can be caused by viral infections, environmental teratogens and vascular or degenerative damage. Other factors include parental age, parity, alcohol and substance abuse, smoking, antenatal bleeding or ethnicity.…”

Section: Other Syndromesmentioning

confidence: 99%

Male hypogonadotropic hypogonadism in various genetic disorders

Niedobylski

Laszczak

Warchoł

et al. 2020

J Educ Health Sport

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Introduction and purpose: Male hypogonadism is diagnosed in patients with total testosterone under 9-12nmol/L (250-350ng/dl) in serum which is associated with numerous symptoms which can severely lower the quality of patients life. Due to the cause and associated levels of gonadotropins it can be divided to hypergonadotropic and hypogonadotropic hypogonadism. Hypogonadotropic hypogonadism occurs far less often, but it’s considered to remain underdiagnosed. The purpose of this study is to review most of the inborn diseases that involve hypogonadotropic hypogonadism as one of their components.Current state of knowledge: Patients with Kallmann syndrome constitute the majority of confirmed hypogonadotropic hypogonadism cases, however due to variable epidemiological data and differing diagnosing processes the exact incidence cannot be estimated – it ranges from 1 in 85 000, to 1 in 5000 males and about 3-4 times less often in women. Other conditions that can occur with hypogonadotropic hypogonadism are Isolated Gonadotropin-Releasing Hormone deficiency, Gonadotropin disorders, Prader-Willi Syndrome, some pleiotropic syndromes like CHARGE syndrome, Patau syndrome, Pfeiffer syndrome, Hartsfield syndrome, Waardenburg syndrome, Bardet-Biedl syndrome, or other syndromes. The evaluation and treatment of some of these conditions does not involve hypogonadism or other gonadal disorders due to short lifespan, which cause the underestimations in hypogonadism morbidity.Conclusions: Regardless of lower incidence of hypogonadotropic hypogonadism compared to hypergonadotropic type, endocrinologists should stay aware of its under-diagnosis and actively search for signs of low gonadotropic hormones and gonadotropin-releasing hormone levels in hypogonadal patients.

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Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

Cited by 34 publications

References 22 publications

Developmental Genes and Malformations in the Hypothalamus

Developmental Genes and Malformations in the Hypothalamus

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

Male hypogonadotropic hypogonadism in various genetic disorders

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