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Article ; Online: Text message reminders for adolescents with poorly controlled type 1 diabetes

Nour Ibrahim / Jean-Marc Treluyer / Nelly Briand / Cécile Godot / Michel Polak / Jacques Beltrand

PLoS ONE, Vol 16, Iss 3, p e

A randomized controlled trial.

2021 Volume 0248549

Abstract: Background Among adolescents with type 1 diabetes, some experience great difficulties with treatment adherence, putting them at high risk of complications. We assessed the effect of text messaging (Short Messaging Service [SMS]) on glycemic control. ... ...

Abstract	Background Among adolescents with type 1 diabetes, some experience great difficulties with treatment adherence, putting them at high risk of complications. We assessed the effect of text messaging (Short Messaging Service [SMS]) on glycemic control. Methods A two-arm open label randomized controlled trial enrolled adolescents with type 1 diabetes aged 12-21 years with baseline HbA1c ≥ 69 mmol/mol (8.5%). The intervention group received daily SMS reminders at self-selected times about insulin injections while the control group received standard of care. The patients allocated to the control group were not aware of the intervention. Results 92 patients were randomized, 45 in the SMS arm and 47 in the control arm. After 6 months, median HbA1c level was significantly lower in the intervention arm: 73 mmol/mol (8.8%) in the SMS arm and 83 mmol/mol (9.7%) in the control arm in the intent-to-treat analysis (P = 0.03) but no longer in the per protocol analysis (P = 0.65). When we consider the proportions of patients whose HbA1c level decreased by at least 1% between baseline and 6 months, we find a significant difference among patients whose baseline HbA1c was ≥ 80 mmol/mol (9.5%) (n = 56): 60% in the SMS arm and 30.6% in the control arm had lowered their HbA1c level (P = 0.03) in the intent-to-treat analysis but not in the per-protocol analysis (P = 0.50). Patients in the SMS arm reported high satisfaction with the intervention. Conclusions While there is a trend to lower HbA1c in the intervention group, no firm conclusions can yet be drawn. Further studies are needed to address methodological issues as we believe these interventions can support behavior change among adolescents with poorly controlled type 1 diabetes. ClinicalTrials.gov identifier: NCT02230137.
Keywords	Medicine ; R ; Science ; Q
Subject code	796
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Correction to

Liping Hou / Ming Zhao / Lijun Fan / Bingyan Cao / Jiajia Chen / Yonghua Cui / Michel Polak / Chunxiu Gong

Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

2022 Volume 1

Keywords	Medicine ; R
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: One hundred twelve cases of 46, XY DSD patients after initial gender assignment

Liping Hou / Ming Zhao / Lijun Fan / Bingyan Cao / Jiajia Chen / Yonghua Cui / Michel Polak / Chunxiu Gong

Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

a short-term survey of gender role and gender dysphoria

2021 Volume 11

Abstract: Abstract Background 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment. ... ...

Abstract	Abstract Background 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment. However, there is no standard uniform of care nor consensus at present. We sought to evaluate the current treatment's rationality and provide a reference basis for the gender reassignment in 46, XY DSD patients with a specific diagnosis. Methods We conducted a cross-sectional survey of gender role with the Pre-school Activities Inventory (PSAI), the Children's Sex Role Inventory (CSRI) in 46, XY DSD patients and set up control groups comparison. Psychiatrist assessed gender dysphoria in patients ≥ 8-year-old with the criteria of diagnostic and statistical manual of mental disorders, 5th edition (DSM-5). Results A total of 112 responders of 136 patients participated in this study (82.4%, aged 2–17.8 years, median age: 4-year-old). The follow-up period was from 6 months to 10 years (median: 2 years). Twenty-five females were reassigned to the male gender after a specific diagnosis (16/25 (64%) in 5 alfa-reductase-2 deficiency (5α-RD2), 5/25 (20%) in partial androgen insensitivity syndrome (PAIS), 4/25 (16%) in NR5A1gene mutation). Male gender assignment increased from 55.3 (n = 62) to 77.7% (n = 87). The median PSAI score was similar to the control males in 5α-RD2, PAIS, and NR5A1 gene mutation groups (p > 0.05); while identical to the control females in complete androgen insensitivity syndrome (CAIS) and CYP17A1 gene mutation groups (p > 0.05). PSAI score of children raised as male was higher than those of CAIS and CYP17A1 groups raised as female (p < 0.05). CSRI scale showed no statistical differences in the consistency of gender roles and reassigned gender between 46, XY DSD patients and control groups (p > 0.05). None of the patients over 8-year-old (n = 44) had gender dysphoria. Conclusion The reassigned gender in 46, XY DSD patients is consistent with their gender role during early childhood. None of them had gender dysphoria. The molecular diagnosis, gonadal function, and the gender reassignment are congruent within our Chinese cohort. Long-term follow-up and more evaluation are still required.
Keywords	46 ; XY disorders of sex development ; Gender assignment ; Gender role ; Gender dysphoria ; Medicine ; R
Subject code	150
Language	English
Publishing date	2021-10-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Age at diagnosis in patients with chronic congenital endocrine conditions

Wafa Kallali / Claude Messiaen / Roumaisah Saïdi / Soucounda Lessim / Magali Viaud / Jerome Dulon / Mariana Nedelcu / Dinane Samara / Muriel Houang / Bruno Donadille / Carine Courtillot / GianPaolo de Filippo / Jean-Claude Carel / Sophie Christin-Maitre / Philippe Touraine / Irene Netchine / Michel Polak / Juliane Léger

Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

a regional cohort study from a reference center for rare diseases

2021 Volume 9

Abstract: Abstract Background For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of comorbid conditions, ... ...

Abstract	Abstract Background For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of comorbid conditions, particularly as it concerns growth, pubertal development and fertility potential. Clinical presentation and severity depend on the disorder and the patient’s age, but diagnosis is often late. Objective To evaluate age at diagnosis for the most frequent congenital endocrine diseases affecting growth and/or development. Patients and Methods This observational cohort study included all patients (n = 4379) with well-defined chronic congenital endocrine diseases—non-acquired isolated growth hormone deficiency (IGHD), isolated congenital hypogonadotropic hypogonadism (ICHH), ectopic neurohypophysis (NH), Turner syndrome (TS), McCune-Albright syndrome (MAS), complete androgen insensitivity syndrome (CAIS) and gonadal dysgenesis (GD)—included in the database of a single multisite reference center for rare endocrine growth and developmental disorders, over a period of 14 years. Patients with congenital hypothyroidism and adrenal hyperplasia were excluded as they are generally identified during neonatal screening. Results Median age at diagnosis depended on the disease: first year of life for GD, before the age of five years for ectopic NH and MAS, 8–10 years for IGHD, TS (11% diagnosed antenatally) and CAIS and 17.4 years for ICHH. One third of the patients were diagnosed before the age of five years. Diagnosis occurred in adulthood in 22% of cases for CAIS, 11.6% for TS, 8.8% for GD, 0.8% for ectopic NH, and 0.4% for IGHD. A male predominance (2/3) was observed for IGHD, ectopic NH, ICHH and GD. Conclusion The early recognition of growth/developmental failure during childhood is essential, to reduce time-to-diagnosis and improve outcomes.
Keywords	Diagnosis ; Congenital endocrine disease ; Cohort ; Female ; Male ; Medicine ; R
Subject code	610
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Hybrid closed-loop insulin delivery versus sensor-augmented pump therapy in children aged 6–12 years

Dulanjalee Kariyawasam, MD / Carole Morin, MD / Kristina Casteels, ProfMD / Claire Le Tallec, MD / Annie Sfez, MD / Cécile Godot, MD / Erik Huneker, MSc / Nathalie Garrec, MD / Pierre-Yves Benhamou, ProfMD / Michel Polak, ProfMD / Guillaume Charpentier, MD / Sylvia Franc, MD / Jacques Beltrand, ProfMD

The Lancet: Digital Health, Vol 4, Iss 3, Pp e158-e

a randomised, controlled, cross-over, non-inferiority trial

2022 Volume 168

Abstract: Summary: Background: Time in range (TIR) goals are rarely met in children with type 1 diabetes, except at the cost of increased hypoglycaemia episodes. Our objective was to evaluate the safety and efficiency of the Diabeloop DBL4K (Diabeloop, Grenoble, ... ...

Abstract	Summary: Background: Time in range (TIR) goals are rarely met in children with type 1 diabetes, except at the cost of increased hypoglycaemia episodes. Our objective was to evaluate the safety and efficiency of the Diabeloop DBL4K (Diabeloop, Grenoble, France) hybrid closed-loop system in prepubescent children. Methods: We did a multicentre, open-label, randomised, controlled, non-inferiority, two-session crossover study in the paediatric endocrinology departments of three university hospitals in France and Belgium. Eligible participants were aged 6–12 years with type 1 diabetes for at least 1 year, glycated haemoglobin A1C 9% (75 mmol/mol) or less, and insulin pump treatment for at least 3 months. Participants were randomly assigned (1:1) to a closed-loop device or sensor-augmented pump (open loop) therapy. Randomisation was by a permuted block randomisation scheme, using an interactive web-based response system, and was stratified on centre (block size 6). The assessed closed-loop device, the Diabeloop for Kids DBL4K hybrid closed-loop system, is an automated blood glucose regulation system composed of a handset, insulin pump, and continuous glucose monitor. The open-loop system is defined as a sensor-augmented pump therapy composed of the usual insulin pump used by the patient and a continuous glucose monitor. A 72-h in-patient period was followed by a 6-week home phase. After a 1-week washout period, the participants crossed over to the other device. The primary outcome, assessed in the intention-to-treat population, was the mean proportion of time spent in hypoglycaemia (3·9 mmol/L [<70 mg/dL]) during the hospital phase, with a non-inferiority margin of –2·5% (absolute value). Safety was assessed in the intention-to-treat population on a per-protocol basis. This study was registered with ClinicalTrials.gov, NCT03671915. Findings: Between May 6 and Dec 23, 2019, we included 21 participants (closed loop then open loop, n=10; open loop then closed loop, n=11). The proportion of time spent in hypoglycaemia ...
Keywords	Computer applications to medicine. Medical informatics ; R858-859.7
Subject code	629
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Bone Health Should Be an Important Concern in the Care of Patients Affected by 21 Hydroxylase Deficiency

Anne Bachelot / Zeina Chakhtoura / Dinane Samara-Boustani / Jérome Dulon / Philippe Touraine / Michel Polak

International Journal of Pediatric Endocrinology , Vol

2010 Volume 2010

Keywords	Diseases of the endocrine glands. Clinical endocrinology ; RC648-665 ; Specialties of internal medicine ; RC581-951 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Internal medicine ; DOAJ:Medicine (General) ; DOAJ:Health Sciences ; Pediatrics ; RJ1-570 ; DOAJ:Pediatrics
Language	English
Publishing date	2010-01-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

Georgios Daniil / Fabio L Fernandes-Rosa / Jean Chemin / Iulia Blesneac / Jacques Beltrand / Michel Polak / Xavier Jeunemaitre / Sheerazed Boulkroun / Laurence Amar / Tim M Strom / Philippe Lory / Maria-Christina Zennaro

EBioMedicine, Vol 13, Iss C, Pp 225-

2016 Volume 236

Abstract: Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH). A recurrent mutation in CACNA1H (coding ... ...

Abstract	Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH). A recurrent mutation in CACNA1H (coding for Cav3.2) was identified in a familial form of early onset PA. Here we performed whole exome sequencing (WES) in patients with different types of PA to identify new susceptibility genes. Four different heterozygous germline CACNA1H variants were identified. A de novo Cav3.2 p.Met1549Ile variant was found in early onset PA and multiplex developmental disorder. Cav3.2 p.Ser196Leu and p.Pro2083Leu were found in two patients with FH, and p.Val1951Glu was identified in one patient with APA. Electrophysiological analysis of mutant Cav3.2 channels revealed significant changes in the Ca2+ current properties for all mutants, suggesting a gain of function phenotype. Transfections of mutant Cav3.2 in H295R-S2 cells led to increased aldosterone production and/or expression of genes coding for steroidogenic enzymes after K+ stimulation. Identification of CACNA1H mutations associated with early onset PA, FH, and APA suggests that CACNA1H might be a susceptibility gene predisposing to PA with different phenotypic presentations, opening new perspectives for genetic diagnosis and management of patients with PA.
Keywords	Adrenal ; Aldosterone producing adenoma ; Familial hyperaldosteronism ; Early onset hyperaldosteronism ; Voltage dependent calcium channel ; Hypertension ; Medicine ; R ; Medicine (General) ; R5-920
Language	English
Publishing date	2016-11-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies

Bouchoucha, Nadia / Amit V. Pandey / Christa E. FlÃ¼ck / Dinane Samara-Boustani / Gaby Hofer / Helene Bony-Trifunovic / Michel Polak / Yves Aigrain

Molecular and Cellular Endocrinology. 2014 June 05, v. 390

2014

Abstract: P450 aromatase (CYP19A1) is essential for the biosynthesis of estrogens from androgen precursors. Mutations in the coding region of CYP19A1 lead to autosomal recessive aromatase deficiency. To date over 20 subjects have been reported with aromatase ... ...

Abstract	P450 aromatase (CYP19A1) is essential for the biosynthesis of estrogens from androgen precursors. Mutations in the coding region of CYP19A1 lead to autosomal recessive aromatase deficiency. To date over 20 subjects have been reported with aromatase deficiency which may manifest during fetal life with maternal virilization and virilization of the external genitalia of a female fetus due to low aromatase activity in the steroid metabolizing fetalâplacental unit and thus high androgen levels. During infancy, girls often have ovarian cysts and thereafter fail to enter puberty showing signs of variable degree of androgen excess. Moreover, impact on growth, skeletal maturation and other metabolic parameters is seen in both sexes.We found a novel homozygous CYP19A1 mutation in a 46,XX girl who was born at term to consanguineous parents. Although the mother did not virilize during pregnancy, the baby was found to have a complex genital anomaly at birth (enlarged genital tubercle, fusion of labioscrotal folds) with elevated androgens at birth, normalizing thereafter. Presence of 46,XX karyotype and female internal genital organs (uterus, vagina) together with biochemical findings and follow-up showing regression of clitoral hypertrophy, as well as elevated FSH suggested aromatase deficiency. Interestingly, her older brother presented with mild hypospadias and bilateral cryptorchidism and was found to carry the same homozygous CYP19A1 mutation. To confirm the clinical diagnosis, genetic, functional and computational studies were performed.Genetic analysis revealed a homozygous R192H mutation in the CYP19A1 gene. This novel mutation was characterized for its enzymatic activity (Km, Vmax) in a cell model and found to have markedly reduced catalytic activity when compared to wild-type aromatase; thus explaining the phenotype. Computational studies suggest that R192H disrupts the substrate access channel in CYP19A1 that may affect binding of substrates and exit of catalytic products.R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy.
Keywords	androgens ; animal ovaries ; aromatase ; biosynthesis ; catalytic activity ; cryptorchidism ; enzyme activity ; estrogens ; female genitalia ; females ; follicle-stimulating hormone ; genes ; girls ; homozygosity ; hypertrophy ; infancy ; karyotyping ; masculinization ; models ; mutation ; neonates ; ovarian cysts ; parents ; phenotype ; pregnancy ; puberty ; uterus ; vagina
Language	English
Dates of publication	2014-0605
Size	p. 8-17.
Publishing place	Elsevier Ireland Ltd
Document type	Article
ZDB-ID	187438-x
ISSN	1872-8057 ; 0303-7207
ISSN (online)	1872-8057
ISSN	0303-7207
DOI	10.1016/j.mce.2014.03.008
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development.

Aurore Carre / Latif Rachdi / Elodie Tron / Bénédicte Richard / Mireille Castanet / Martin Schlumberger / Jean-Michel Bidart / Gabor Szinnai / Michel Polak

PLoS ONE, Vol 6, Iss 2, p e

2011 Volume 16752

Abstract: Notch signalling plays an important role in endocrine development, through its target gene Hes1. Hes1, a bHLH transcriptional repressor, influences progenitor cell proliferation and differentiation. Recently, Hes1 was shown to be expressed in the thyroid ...

Abstract	Notch signalling plays an important role in endocrine development, through its target gene Hes1. Hes1, a bHLH transcriptional repressor, influences progenitor cell proliferation and differentiation. Recently, Hes1 was shown to be expressed in the thyroid and regulate expression of the sodium iodide symporter (Nis). To investigate the role of Hes1 for thyroid development, we studied thyroid morphology and function in mice lacking Hes1. During normal mouse thyroid development, Hes1 was detected from E9.5 onwards in the median anlage, and at E11.5 in the ultimobranchial bodies. Hes1(-/-) mouse embryos had a significantly lower number of Nkx2-1-positive progenitor cells (p<0.05) at E9.5 and at E11.5. Moreover, Hes1(-/-) mouse embryos showed a significantly smaller total thyroid surface area (-40 to -60%) compared to wild type mice at all study time points (E9.5-E16.5). In both Hes1(-/-) and wild type mouse embryos, most Nkx2-1-positive thyroid cells expressed the cell cycle inhibitor p57 at E9.5 in correlation with low proliferation index. In Hes1(-/-) mouse embryos, fusion of the median anlage with the ultimobranchial bodies was delayed by 3 days (E16.5 vs. E13.5 in wild type mice). After fusion of thyroid anlages, hypoplastic Hes1(-/-) thyroids revealed a significantly decreased labelling area for T4 (-78%) and calcitonin (-65%) normalized to Nkx2-1 positive cells. Decreased T4-synthesis might be due to reduced Nis labelling area (-69%). These findings suggest a dual role of Hes1 during thyroid development: first, control of the number of both thyrocyte and C-cell progenitors, via a p57-independent mechanism; second, adequate differentiation and endocrine function of thyrocytes and C-cells.
Keywords	Medicine ; R ; Science ; Q
Subject code	630
Language	English
Publishing date	2011-02-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
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Article ; Online: TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Athanasia Stoupa / Frédéric Adam / Dulanjalee Kariyawasam / Catherine Strassel / Sanjay Gawade / Gabor Szinnai / Alexandre Kauskot / Dominique Lasne / Carsten Janke / Kathiresan Natarajan / Alain Schmitt / Christine Bole‐Feysot / Patrick Nitschke / Juliane Léger / Fabienne Jabot‐Hanin / Frédéric Tores / Anita Michel / Arnold Munnich / Claude Besmond /

Raphaël Scharfmann / François Lanza / Delphine Borgel / Michel Polak / Aurore Carré

EMBO Molecular Medicine, Vol 10, Iss 12, Pp n/a-n/a (2018)

2018

Abstract: Abstract The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co‐segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations in TD ... ...

Abstract	Abstract The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co‐segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations in TD study cohort. TUBB1 (Tubulin, Beta 1 Class VI) encodes for a member of the β‐tubulin protein family. TUBB1 gene is expressed in the developing and adult thyroid in humans and mice. All three TUBB1 mutations lead to non‐functional α/β‐tubulin dimers that cannot be incorporated into microtubules. In mice, Tubb1 knock‐out disrupted microtubule integrity by preventing β1‐tubulin incorporation and impaired thyroid migration and thyroid hormone secretion. In addition, TUBB1 mutations caused the formation of macroplatelets and hyperaggregation of human platelets after stimulation by low doses of agonists. Our data highlight unexpected roles for β1‐tubulin in thyroid development and in platelet physiology. Finally, these findings expand the spectrum of the rare paediatric diseases related to mutations in tubulin‐coding genes and provide new insights into the genetic background and mechanisms involved in congenital hypothyroidism and thyroid dysgenesis.
Keywords	congenital hypothyroidism ; macroplatelets ; mutations ; thyroid dysgenesis ; TUBB1 ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
Language	English
Publishing date	2018-12-01T00:00:00Z
Publisher	Wiley
Document type	Article ; Online
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