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  1. Article ; Online: Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.

    Probst-Scheidegger, Ursina / Udhane, Sameer S / l'Allemand, Dagmar / Flück, Christa E / Camats, Núria

    Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

    2016  Volume 10, Issue 4, Page(s) 200–204

    Abstract: Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in ... ...

    Abstract Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in newborn screening due to elevated 17OH-progesterone. Female external genitalia and non-measurable androgen levels elicited the suspicion of a defect early in the steroid cascade. Two loss-of-function HSD3B2 mutations (1 novel) were detected and confirmed in silico. We argue that in a girl with glucocorticoid and mineralocorticoid deficiency without virilization, 3β-HSD II deficiency is an important differential diagnosis. 17OH-progesterone may initially be elevated due to placental and peripheral activity of 3β-HSD I, whereas dehydroepiandrosterone may not be increased.
    Language English
    Publishing date 2016
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2253672-3
    ISSN 1661-5433 ; 1661-5425
    ISSN (online) 1661-5433
    ISSN 1661-5425
    DOI 10.1159/000448724
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Knochengesundheit bei Kindern und Jugendlichen mit erhöhtem Frakturrisiko

    l'Allemand, Dagmar / Heldt, Katrin / Stasinaki, Aikaterini / Probst-Scheidegger, Ursina

    Pädiatrie

    2016  Volume 21, Issue 5, Page(s) 29

    Language German
    Document type Article
    ZDB-ID 1364646-1
    ISSN 1424-8468 ; 0004-2897
    Database Current Contents Medicine

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  3. Article: Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel ; Mutation

    Probst-Scheidegger, Ursina / Udhane, Sameer S. / l'Allemand, Dagmar / Flück, Christa E. / Camats, Núria

    Sexual Development

    2016  Volume 10, Issue 4, Page(s) 200–204

    Abstract: Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in ... ...

    Institution Pediatric Department, Kantonsspital Winterthur, Winterthur Children's Hospital of Eastern Switzerland, St. Gallen, and Pediatric Endocrinology and Diabetology, Department of Pediatrics and Department of Clinical Research, University Children's Hospital Bern, Bern, Switzerland Growth and Development Research Unit, Vall d'Hebron Research Institute (VHIR), Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain
    Abstract Classic 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in newborn screening due to elevated 17OH-progesterone. Female external genitalia and non-measurable androgen levels elicited the suspicion of a defect early in the steroid cascade. Two loss-of-function HSD3B2 mutations (1 novel) were detected and confirmed in silico. We argue that in a girl with glucocorticoid and mineralocorticoid deficiency without virilization, 3β-HSD II deficiency is an important differential diagnosis. 17OH-progesterone may initially be elevated due to placental and peripheral activity of 3β-HSD I, whereas dehydroepiandrosterone may not be increased.
    Keywords 3β-Hydroxysteroid dehydrogenase ; Congenital adrenal hyperplasia ; Newborn screening
    Language English
    Publishing date 2016-09-15
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Short Report
    ZDB-ID 2253672-3
    ISSN 1661-5433 ; 1661-5425
    ISSN (online) 1661-5433
    ISSN 1661-5425
    DOI 10.1159/000448724
    Database Karger publisher's database

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  4. Article ; Online: Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

    Lawrence, Neil / Bacila, Irina / Dawson, Jeremy / Bryce, Jillian / Ali, Salma R / van den Akker, Erica L T / Bachega, Tânia A S S / Baronio, Federico / Birkebaek, Niels H / Bonfig, Walter / van der Grinten, Hedi C / Costa, Eduardo C / de Vries, Liat / Elsedfy, Heba / Güven, Ayla / Hannema, Sabine / Iotova, Violeta / van der Kamp, Hetty J / Clemente, María /
    Lichiardopol, Corina R / Milenkovic, Tatjana / Neumann, Uta / Nordenström, Ana / Poyrazoğlu, Şukran / Probst-Scheidegger, Ursina / De Sanctis, Luisa / Tadokoro-Cuccaro, Rieko / Thankamony, Ajay / Vieites, Ana / Yavaş, Zehra / Faisal Ahmed, Syed / Krone, Nils

    Clinical endocrinology

    2022  Volume 97, Issue 5, Page(s) 551–561

    Abstract: Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).: Design: Retrospective cohort study using real-world data to ... ...

    Abstract Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).
    Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries.
    Patients: Pseudonymized data from children with 21-hydroxylase deficiency (21OHD) recorded in the International CAH Registry.
    Measurements: Assessments between January 2000 and October 2020 in patients prescribed HC were reviewed to summarise biomarkers 17OHP and D4 and HC dose. Longitudinal assessment of measures was carried out using linear mixed-effects models (LMEM).
    Results: Cohort of 345 patients, 52.2% female, median age 4.3 years (interquartile range: 3.1-9.2) were taking a median 11.3 mg/m
    Discussion: Registry data show large variability in 17OHP and D4 between centres. 17OHP correlates with D4 well when accounting for age. Prescribed HC dose per body surface area decreased with weight gain.
    MeSH term(s) 17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital/drug therapy ; Androstenedione ; Child ; Child, Preschool ; Female ; Humans ; Hydrocortisone/therapeutic use ; Male ; Progesterone ; Registries ; Retrospective Studies
    Chemical Substances Androstenedione (409J2J96VR) ; Progesterone (4G7DS2Q64Y) ; 17-alpha-Hydroxyprogesterone (68-96-2) ; Hydrocortisone (WI4X0X7BPJ)
    Language English
    Publishing date 2022-07-11
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 121745-8
    ISSN 1365-2265 ; 0300-0664
    ISSN (online) 1365-2265
    ISSN 0300-0664
    DOI 10.1111/cen.14796
    Database MEDical Literature Analysis and Retrieval System OnLINE

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