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Article ; Online: Block and Replace-a New Therapeutic Concept in Congenital Adrenal Hyperplasia?

Reisch, Nicole

The Journal of clinical endocrinology and metabolism

2021 Volume 107, Issue 1, Page(s) e423–e425

MeSH term(s)	17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital/drug therapy ; Androstenedione ; Humans
Chemical Substances	Androstenedione (409J2J96VR) ; 17-alpha-Hydroxyprogesterone (68-96-2)
Language	English
Publishing date	2021-07-31
Publishing country	United States
Document type	Editorial ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgab555
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Pregnancy in Congenital Adrenal Hyperplasia.

Reisch, Nicole

Endocrinology and metabolism clinics of North America

2019 Volume 48, Issue 3, Page(s) 619–641

Abstract: Fertility rates in classic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency are substantially decreased for various reasons, including hormonal, anatomic, psychosocial, and psychosexual causes. However, fecundity is comparable with the ... ...

Abstract	Fertility rates in classic congenital adrenal hyperplasia caused by 21-hydroxylase deficiency are substantially decreased for various reasons, including hormonal, anatomic, psychosocial, and psychosexual causes. However, fecundity is comparable with the general population. Under optimal hormone replacement, the course and outcome of pregnancies is also good. This article summarizes successful gestational management, including preconceptional considerations, adjustment of hormone replacement during pregnancy, delivery and lactation, as well as the prevention of adrenal crises. In nonclassic 21-hydroxylase deficiency, preconceptional low-dose hydrocortisone replacement normalizes the otherwise increased miscarriage rate. Pregnancy reports in rarer forms of congenital adrenal hyperplasia are summarized as well.
MeSH term(s)	Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/epidemiology ; Adrenal Hyperplasia, Congenital/therapy ; Female ; Fertility/genetics ; Hormone Replacement Therapy ; Humans ; Hydrocortisone/therapeutic use ; Preconception Care/methods ; Preconception Care/standards ; Pregnancy ; Pregnancy Complications/diagnosis ; Pregnancy Complications/epidemiology ; Pregnancy Complications/therapy
Chemical Substances	Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2019-06-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	92116-6
ISSN	1558-4410 ; 0889-8529
ISSN (online)	1558-4410
ISSN	0889-8529
DOI	10.1016/j.ecl.2019.05.011
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Article ; Online: Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

Reisch, Nicole

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association

2019 Volume 127, Issue 2-03, Page(s) 171–177

Abstract: The introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies. Early ... ...

Abstract	The introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies. Early diagnosis and optimised pediatric care not only successfully led to survival but also allow that almost all patients reach adulthood. Cohort studies in adults, however, provided evidence for significant health problems and co-morbidities of adult patients such as life-threatening adrenal crises, cardiovascular and metabolic health problems, fertility problems, benign endocrine tumours, and osteopenia and osteoporosis. This review summarises the current state of knowledge aiming to emphasize the neccessity of primary and secondary prevention of additional long-term health issues as a major task of health professionals in the care of CAH.
MeSH term(s)	Adrenal Hyperplasia, Congenital/complications ; Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/prevention & control ; Adrenal Hyperplasia, Congenital/therapy ; Adult ; Child ; Humans ; Infant, Newborn
Language	English
Publishing date	2019-02-27
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	1225416-2
ISSN	1439-3646 ; 0947-7349
ISSN (online)	1439-3646
ISSN	0947-7349
DOI	10.1055/a-0820-2085
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Article ; Online: Challenges Waiting for an Adult with DSD.

Nowotny, Hanna Franziska / Reisch, Nicole

Hormone research in paediatrics

2022 Volume 96, Issue 2, Page(s) 207–221

Abstract: Background: Disorders/differences of sex development (DSD) comprise a heterogeneous group of inborn conditions where the individual's sex chromosomes, gonads, and/or anatomical sex are discordant. Since the Chicago Consensus Conference in 2005, ... ...

Abstract	Background: Disorders/differences of sex development (DSD) comprise a heterogeneous group of inborn conditions where the individual's sex chromosomes, gonads, and/or anatomical sex are discordant. Since the Chicago Consensus Conference in 2005, multidisciplinary care has been implemented in specialised paediatric tertiary care centres and clinical practice has substantially changed towards a more holistic approach. Summary: Psychological support has become a key factor in the management of DSD. After paediatric care, one of the main challenges is the transition of patients to expert care in adulthood. Patients frequently experience difficulties in accessing specialised medical care in adulthood, resulting in loss to follow-up affecting the patients' physical and psychological health as well as quality of life. Clinical features and long-term outcomes are highly variable in most DSD conditions. Although medical care has improved, morbidity and mortality are increased in all conditions. A particular challenge in the care of DSD patients in adulthood is optimisation of fertility potential. Ideally, this is addressed already in adolescence and requires close interaction of not only paediatricians and adult endocrinologists but also urologists, andrologists or gynaecologists, and psychologists. Key messages: This review addresses issues relating to transition of DSD care from the paediatric to adult care as well as health-related challenges in adulthood in DSD.
MeSH term(s)	Adolescent ; Humans ; Adult ; Child ; Disorders of Sex Development/therapy ; Disorders of Sex Development/psychology ; Quality of Life/psychology ; Transition to Adult Care ; Fertility ; Mental Health
Language	English
Publishing date	2022-12-06
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2537278-6
ISSN	1663-2826 ; 1663-2818
ISSN (online)	1663-2826
ISSN	1663-2818
DOI	10.1159/000527433
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Article ; Online: [No title information]

Reisch, Nicole

Deutsche medizinische Wochenschrift (1946)

2017 Volume 142, Issue 20, Page(s) 1490–1494

Title translation	Neues beim Adrenogenitalen Syndrom.
Language	German
Publishing date	2017
Publishing country	Germany
Document type	Journal Article
ZDB-ID	200446-x
ISSN	1439-4413 ; 0012-0472
ISSN (online)	1439-4413
ISSN	0012-0472
DOI	10.1055/s-0042-117270
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Article ; Online: Thyroid Disorders and Movement Disorders-A Systematic Review.

Schneider, Susanne A / Tschaidse, Lea / Reisch, Nicole

Movement disorders clinical practice

2023 Volume 10, Issue 3, Page(s) 360–368

Abstract: Background: There is overlap between movement disorders and neuroendocrine abnormalities.: Objectives and methods: To provide a systematic review on the association of thyroid dysfunction and movement disorders. Thyroid physiological function and ... ...

Abstract	Background: There is overlap between movement disorders and neuroendocrine abnormalities. Objectives and methods: To provide a systematic review on the association of thyroid dysfunction and movement disorders. Thyroid physiological function and classical thyroid disorders highlighting typical and atypical manifestations including movement disorders, as well as diagnostic procedures, and treatments are discussed. Results: Hypothyroidism may be associated with hypokinetic and hyperkinetic disorders. There is debate whether their concomitance reflects a causal link, is coincidence, or the result of one unmasking the other. Hypothyroidism-associated parkinsonism may resemble idiopathic Parkinson's disease. Hypothyroidism-associated hyperkinetic disorders mainly occur in the context of steroid-responsive encephalopathy with autoimmune thyroiditis, that is, Hashimoto disease, mostly manifesting with tremor, myoclonus, and ataxia present in 28-80%, 42-65% and 33-65% in larger series. Congenital hypothyroidism manifesting with movement disorders, mostly chorea and dystonia, due to Mendelian genetic disease are rare.Hyperthyroidism on the other hand mostly manifests with hyperkinetic movement disorders, typically tremor (present in three quarters of patients). Chorea (present in about 2% of hyperthyroid patients), dystonia, myoclonus, ataxia and paroxysmal movement disorders, as well as parkinsonism have also been reported, with correlation between movement intensity and thyroid hormone levels.On a group level, studies on the role of thyroid dysfunction as a risk factor for the development of PD remain non-conclusive. Conclusions: In view of the treatability of movement disorders associated with thyroid disease, accurate diagnosis is important. The pathophysiology remains poorly understood. More detailed case documentation and systematic studies, along with experimental studies are needed.
Language	English
Publishing date	2023-02-03
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2330-1619
ISSN (online)	2330-1619
DOI	10.1002/mdc3.13656
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Reisch, Nicole

Experimental and Clinical Endocrinology & Diabetes

2019 Volume 127, Issue 02/03, Page(s) 171–177

Abstract	The introduction of newborn screening programmes in most Western countries for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) enables timely introduction of life-saving glucocorticoid replacement in affected babies. Early diagnosis and optimised pediatric care not only successfully led to survival but also allow that almost all patients reach adulthood. Cohort studies in adults, however, provided evidence for significant health problems and co-morbidities of adult patients such as life-threatening adrenal crises, cardiovascular and metabolic health problems, fertility problems, benign endocrine tumours, and osteopenia and osteoporosis. This review summarises the current state of knowledge aiming to emphasize the neccessity of primary and secondary prevention of additional long-term health issues as a major task of health professionals in the care of CAH.
Keywords	congenital adrenal hyperplasia ; 21-hydroxylase deficiency ; adrenal androgens ; adrenal crisis ; fertility ; testicular adrenal rest tumour ; cardiovascular risk ; bone health
Language	English
Publishing date	2019-02-01
Publisher	© Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	1225416-2
ISSN	1439-3646 ; 0947-7349
ISSN (online)	1439-3646
ISSN	0947-7349
DOI	10.1055/a-0820-2085
Database	Thieme publisher's database

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Article ; Online: Langzeitmorbidität beim adrenogenitalen Syndrom.

Tschaidse, Lea / Quitter, Friederike / Hübner, Angela / Reisch, Nicole

Der Internist

2022 Volume 63, Issue 1, Page(s) 43–50

Abstract: Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders and is characterized by cortisol deficiency. The most common cause of CAH is a mutation in the CYP21A2 gene, resulting in 21-hydroxylase deficiency in the ... ...

Title translation	Long-term morbidity in congenital adrenal hyperplasia.
Abstract	Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders and is characterized by cortisol deficiency. The most common cause of CAH is a mutation in the CYP21A2 gene, resulting in 21-hydroxylase deficiency in the adrenal cortex. The lack of cortisol causes an increase in adrenocorticotropic hormone (ACTH), which in turn results in an excess of adrenal androgens. Aldosterone synthesis may also be impaired. The clinical manifestation of CAH depends on the residual activity of 21-hydroxylase and the subsequent lack of cortisol and adrenal androgen excess. While classic CAH is a potentially life-threatening condition, non-classic CAH is mild to asymptomatic. Therapy of classic CAH consists of glucocorticoid and mineralocorticoid substitution. Despite optimization of therapy, CAH still leads to increased morbidity and mortality in patients. The clinical consequences of androgen excess in affected women range from intrauterine virilisation of external genitalia in classic CAH patients to mild symptoms of hyperandrogenism in non-classic forms. Increased demand for cortisol during illness or physical and psychological stress situations can trigger life-threatening adrenal crises. As current glucocorticoid therapy cannot mimic the physiological circadian rhythm and is usually supraphysiological in dose to control androgen excess, therapy-associated long-term consequences such as decreased bone health and an increased cardiometabolic risk profile are common. The burden of the disease may also lead to impaired quality of life and mental health. For this reason, regular screening and follow-up of patients with CAH should be performed in specialized centers to detect and treat possible comorbidities at an early stage.
MeSH term(s)	Adrenal Hyperplasia, Congenital/diagnosis ; Adrenal Hyperplasia, Congenital/drug therapy ; Female ; Glucocorticoids/therapeutic use ; Humans ; Morbidity ; Quality of Life ; Steroid 21-Hydroxylase/genetics
Chemical Substances	Glucocorticoids ; CYP21A2 protein, human (EC 1.14.14.16) ; Steroid 21-Hydroxylase (EC 1.14.14.16)
Language	German
Publishing date	2022-01-03
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	2913-0
ISSN	1432-1289 ; 0020-9554
ISSN (online)	1432-1289
ISSN	0020-9554
DOI	10.1007/s00108-021-01223-6
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Substitution therapy in adult patients with congenital adrenal hyperplasia.

Reisch, Nicole

Best practice & research. Clinical endocrinology & metabolism

2015 Volume 29, Issue 1, Page(s) 33–45

Abstract: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited disorders caused by defective steroidogenesis. Steroid 21-hydroxylase deficiency (21OHD) is its most prevalent form, accounting for over 90% of all cases. Clinically classic ...

Abstract	Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited disorders caused by defective steroidogenesis. Steroid 21-hydroxylase deficiency (21OHD) is its most prevalent form, accounting for over 90% of all cases. Clinically classic 21OHD is characterised by glucocorticoid deficiency and adrenal androgen excess with (salt wasting form) or without (simple virilising form) additional mineralocorticoid deficiency. Life-saving glucocorticoid substitution therapy has been available since the 1950s and enables long-term survival, and potentially, a good quality of life. However, care of adult patients with classic congenital adrenal hyperplasia is challenging for two main reasons: firstly, there is no glucocorticoid preparation available mimicking circadian cortisol release and adaptation to stress and secondly, management of adult patients is still in its infancy. There is no evidence-based treatment and experienced centres, taking care of larger patient cohorts, are only emerging. In this article we aim to guide physicians on the treatment and monitoring of adult patients with 21OHD, based on the clinical studies available and our own clinical experience.
MeSH term(s)	Adrenal Hyperplasia, Congenital/drug therapy ; Adult ; Glucocorticoids/therapeutic use ; Hormone Replacement Therapy ; Humans ; Quality of Life
Chemical Substances	Glucocorticoids
Language	English
Publishing date	2015-01
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	2052339-7
ISSN	1878-1594 ; 1532-1908 ; 1521-690X
ISSN (online)	1878-1594 ; 1532-1908
ISSN	1521-690X
DOI	10.1016/j.beem.2014.11.002
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Book ; Online ; Thesis: The role of E47 in patients with endogenous glucocorticoid excess

Zhang, Wei [Verfasser] / Reisch, Nicole [Akademischer Betreuer]

2023

Author's details	Wei Zhang ; Betreuer: Nicole Reisch
Keywords	Medizin, Gesundheit ; Medicine, Health
Subject code	sg610
Language	English
Publisher	Universitätsbibliothek der Ludwig-Maximilians-Universität
Publishing place	München
Document type	Book ; Online ; Thesis
Database	Digital theses on the web

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