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  1. AU="Stancampiano, Marianna Rita"
  2. TI=Benign course and clinical features of COVID 19 in hospitalised febrile infants up to 60 days old

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  1. Artikel: 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.

    Stancampiano, Marianna Rita / Meroni, Silvia Laura Carla / Bucolo, Carmen / Russo, Gianni

    Frontiers in endocrinology

    2024  Band 15, Seite(n) 1402579

    Abstract: The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or ... ...

    Abstract The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.
    Mesh-Begriff(e) Humans ; Adrenal Hyperplasia, Congenital/drug therapy ; Adrenal Hyperplasia, Congenital/genetics ; Puberty ; Hormone Replacement Therapy ; Fertility/drug effects ; Female ; Male ; Disorders of Sex Development/genetics ; Sexual Development/genetics
    Sprache Englisch
    Erscheinungsdatum 2024-05-22
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2024.1402579
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Potentialities of Gene Therapy in Pediatric Endocrinology.

    Frontino, Giulio / Stancampiano, Marianna Rita / Aiuti, Alessandro

    Hormone research in paediatrics

    2021  Band 96, Heft 6, Seite(n) 646–657

    Abstract: Gene therapy has become an appealing therapeutic option in many pediatric fields, including endocrinology. Unlike traditional drugs based on molecules that require repeated and frequent burdensome administrations, a single genetic therapeutic ... ...

    Abstract Gene therapy has become an appealing therapeutic option in many pediatric fields, including endocrinology. Unlike traditional drugs based on molecules that require repeated and frequent burdensome administrations, a single genetic therapeutic intervention may allow durable and curative clinical benefits. Although this highly innovative technology holds a great promise for the treatment of monogenic diseases, its clinical applications in the field of endocrinology have been so far challenging. In this review, we will discuss various ex vivo and in vivo approaches and potential applications of gene addition and gene editing approaches for treating hyperfunctional and hypofunctional endocrine diseases due to intrinsic defects or autoimmune origin. We will focus on the recent advances in gene therapy approaches aimed at treating type 1 diabetes and monogenic forms of endocrinopathies such as growth hormone deficiency, congenital adrenal hyperplasia, diabetes insipidus, IPEX, as well as their trends and future directions.
    Mesh-Begriff(e) Humans ; Child ; Endocrinology ; Endocrine System Diseases/genetics ; Endocrine System Diseases/therapy ; Endocrine System ; Diabetes Mellitus, Type 1 ; Genetic Therapy
    Sprache Englisch
    Erscheinungsdatum 2021-11-19
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000520965
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

    Frontino, Giulio / Di Tonno, Raffaella / Stancampiano, Marianna Rita / Arrigoni, Francesca / Rigamonti, Andrea / Morotti, Elisa / Canarutto, Daniele / Bonfanti, Riccardo / Russo, Gianni / Barera, Graziano / Piemonti, Lorenzo

    Frontiers in endocrinology

    2023  Band 14, Seite(n) 1155644

    Abstract: Aims: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its "classic" form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and ... ...

    Abstract Aims: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its "classic" form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features of WFS1-SD. Gonadal dysfunction (GD) has been described mainly in adults with variable prevalence and referred to as a minor clinical feature. This is the first case series investigating gonadal function in a small cohort of paediatric patients affected by WFS1-SD.
    Methods: Gonadal function was investigated in eight patients (3 male and 5 female) between 3 and 16 years of age. Seven patients have been diagnosed with classic WFS1-SD and one with non-classic WFS1-SD. Gonadotropin and sex hormone levels were monitored, as well as markers of gonadal reserve (inhibin-B and anti-Mullerian hormone). Pubertal progression was assessed according to Tanner staging.
    Results: Primary hypogonadism was diagnosed in 50% of patients (n=4), more specifically 67% (n=2) of males and 40% of females (n=2). Pubertal delay was observed in one female patient. These data confirm that gonadal dysfunction may be a frequent and underdiagnosed clinical feature in WFS1-SD.
    Conclusions: GD may represent a frequent and earlier than previously described feature in WFS1-SD with repercussions on morbidity and quality of life. Consequently, we suggest that GD should be included amongst clinical diagnostic criteria for WFS1-SD, as has already been proposed for urinary dysfunction. Considering the heterogeneous and elusive presentation of WFS1-SD, this clinical feature may assist in an earlier diagnosis and timely follow-up and care of treatable associated diseases (i.e. insulin and sex hormone replacement) in these young patients.
    Mesh-Begriff(e) Adult ; Humans ; Female ; Male ; Child ; Wolfram Syndrome/complications ; Wolfram Syndrome/diagnosis ; Quality of Life ; Gonadal Disorders ; Gonads ; Diabetes Mellitus, Type 1
    Sprache Englisch
    Erscheinungsdatum 2023-06-13
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2023.1155644
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Congenital Micropenis: Etiology And Management.

    Stancampiano, Marianna Rita / Suzuki, Kentaro / O'Toole, Stuart / Russo, Gianni / Yamada, Gen / Faisal Ahmed, Syed

    Journal of the Endocrine Society

    2021  Band 6, Heft 2, Seite(n) bvab172

    Abstract: In the newborn, penile length is determined by a number of androgen dependent and independent factors. The current literature suggests that there are interracial differences in stretched penile length in the newborn and although congenital micropenis ... ...

    Abstract In the newborn, penile length is determined by a number of androgen dependent and independent factors. The current literature suggests that there are interracial differences in stretched penile length in the newborn and although congenital micropenis should be defined as a stretched penile length of less than 2.5 SDS of the mean for the corresponding population and gestation, a pragmatic approach would be to evaluate all boys with a stretched penile length below 2 cm, as congenital micropenis can be a marker for a wide range of endocrine conditions. However, it remains unclear as to whether the state of micropenis, itself, is associated with any long-term consequences. There is a lack of systematic studies comparing the impact of different therapeutic options on long-term outcomes, in terms of genital appearance, quality of life, and sexual satisfaction. To date, research has been hampered by a small sample size and inclusion of a wide range of heterogeneous diagnoses; for these reasons, condition-specific outcomes have been difficult to compare between studies. Lastly, there is a need for a greater collaborative effort in collecting standardized data so that all real-world or experimental interventions performed at an early age can be studied systematically into adulthood.
    Sprache Englisch
    Erscheinungsdatum 2021-11-15
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Review
    ISSN 2472-1972
    ISSN (online) 2472-1972
    DOI 10.1210/jendso/bvab172
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Testosterone Therapy in Adolescent Boys: The Need for a Structured Approach.

    Stancampiano, Marianna Rita / Lucas-Herald, Angela K / Russo, Gianni / Rogol, Alan D / Ahmed, S Faisal

    Hormone research in paediatrics

    2019  Band 92, Heft 4, Seite(n) 215–228

    Abstract: Background: In adolescents, testosterone may have several effects including promotion of secondary sexual characteristics and pubertal growth, attainment of optimal muscle mass and peak bone mass, optimization of the metabolic profile, and psychosocial ... ...

    Abstract Background: In adolescents, testosterone may have several effects including promotion of secondary sexual characteristics and pubertal growth, attainment of optimal muscle mass and peak bone mass, optimization of the metabolic profile, and psychosocial maturation and well-being.
    Summary: Testosterone therapy is a cornerstone of the management of hypogonadism in boys. Since the initial report of the chemical synthesis of testosterone, several formulations have continued to develop, and although many of these have been used in boys, none of them have been studied in detail in this age group. Given the wide ranging effects of testosterone, the level of evidence for their effects in boys and the heterogeneity of conditions that lead to early-onset hypogonadism, a standardized protocol for monitoring testosterone replacement in this age group is needed. Key Messages: In this review, we focus on the perceived benefits of androgen replacement in boys affected by pubertal delay and highlight the need to improve the health monitoring of boys who receive androgen replacement therapy, proposing different approaches based on the underlying pathophysiology.
    Mesh-Begriff(e) Adolescent ; Hormone Replacement Therapy/methods ; Humans ; Hypogonadism/drug therapy ; Male ; Puberty, Delayed/drug therapy ; Testosterone/therapeutic use
    Chemische Substanzen Testosterone (3XMK78S47O)
    Sprache Englisch
    Erscheinungsdatum 2019-12-18
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000504670
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 414: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Artikel ; 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  Band 189, Heft 4, Seite(n) 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-Begriff(e) Adolescent ; Humans ; Male ; Adrenal Hyperplasia, Congenital/genetics ; Adrenal Rest Tumor/epidemiology ; Adrenal Rest Tumor/etiology ; Cohort Studies ; Testicular Neoplasms/epidemiology ; Testicular Neoplasms/complications ; Child
    Sprache Englisch
    Erscheinungsdatum 2023-10-30
    Erscheinungsland England
    Dokumenttyp 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
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Uh III Zs.147: Hefte anzeigen Standort:
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    ab Jg. 2022: Lesesaal (EG)

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  7. Artikel ; Online: Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort.

    Capalbo, Donatella / Moracas, Cristina / Cappa, Marco / Balsamo, Antonio / Maghnie, Mohamad / Wasniewska, Malgorzata Gabriela / Greggio, Nella Augusta / Baronio, Federico / Bizzarri, Carla / Ferro, Giusy / Di Lascio, Alessandra / Stancampiano, Marianna Rita / Azzolini, Sara / Patti, Giuseppa / Longhi, Silvia / Valenzise, Mariella / Radetti, Giorgio / Betterle, Corrado / Russo, Gianni /
    Salerno, Mariacarolina

    The Journal of clinical endocrinology and metabolism

    2020  Band 106, Heft 3, Seite(n) 762–773

    Abstract: Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.: Objective: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality ... ...

    Abstract Context: Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.
    Objective: To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.
    Patients and methods: Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.
    Results: The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 ± 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 ± 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was -0.70 ± 1.20 standard deviation score.
    Conclusions: We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.
    Sprache Englisch
    Erscheinungsdatum 2020-12-16
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgaa881
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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