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The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research

The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network
CONCLUSION: This work suggests that better knowledge of the patient's experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.PMID:37951412 | DOI:10.1016/j.ando.2023.10.008 (Source: Annales d'Endocrinologie)
Source: Annales d'Endocrinologie - November 11, 2023 Category: Endocrinology Authors: Haifa Rahabi Maria Givony B éatrice Demaret Fr édérique Albarel Marie-Reine Aubron Beate Bart ès Lucie Bernard Hendy Abdoul Naim Bouazza Philippe Brun Delphine Drui V éronique Dujardin Catherine Lan çon Sabine Malivoir Ir ène Netchine B énédicte Source Type: research

Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant
Key Clinical MessageJacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia. Further studies are needed to conclude the relationship between Jacobs syndrome and congenital adrenal hyperplasia.AbstractA 5-month-old male infant was evaluated for ambiguous genitalia. Examination revealed cryptorchidism, inguinal hernia, long phallus, and Grade 3 scrotal hypospadias. Serum 17-OH progesterone was high and chromosomal analysis showed 47XYY/45XO. A diagnosis of Jacobs and CAH was made. The parents were counseled about the patient's condition. He was g...
Source: Clinical Case Reports - November 10, 2023 Category: General Medicine Authors: Qaisar Ali Khan, Faiza Amatul ‐Hadi, Amritpal Kooner, Amber Lee, Rahma Ahmed, Adithya Nadella, Harshawardhan Pande, Yaxel Levin‐Carrion, Muhammad Afzal, Moses Alfaro Tags: CASE REPORT Source Type: research

Evaluation of ex-vivo adrenocorticotropic hormone-responsiveness of human fetal testis
Endocrinology. 2023 Nov 3:bqad165. doi: 10.1210/endocr/bqad165. Online ahead of print.ABSTRACTTesticular adrenal rest tumors (TART), commonly occurring in males with congenital adrenal hyperplasia, may arise from chronic stimulation of adrenocorticotropic hormone (ACTH)-sensitive cells in the testes. It is not yet established whether the human fetal testis (HFT) is responsive to ACTH. To investigate this, we cultured HFT tissue with and without ACTH for up to 5 days, and quantified adrenal steroid hormones and expression of adrenal steroidogenic enzymes. Fetal testis and adrenal tissue produced high levels of testosterone ...
Source: Endocrinology - November 7, 2023 Category: Endocrinology Authors: Mariska A M Schr öder David Greenald Renate Lodewijk Antonius E van Herwaarden Paul N Span Fred C G J Sweep Rod T Mitchell Hedi L Claahsen-van der Grinten Source Type: research

Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia
CONCLUSIONS: Some cardiometabolic risk factors were increased in patients with CAH and were associated with clinical, hormonal and treatment parameters of CAH. Cardiometabolic risk should be evaluated regularly in patients with CAH.PMID:37919699 | DOI:10.1186/s12902-023-01499-9 (Source: Atherosclerosis)
Source: Atherosclerosis - November 3, 2023 Category: Cardiology Authors: Tania M Espinosa Reyes Alba Katherine Pes ántez Velepucha Julio Oscar Cabrera Rego Wendy Vald és Gómez Emma Dom ínguez Alonso Henrik Falhammar Source Type: research

Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia
CONCLUSIONS: Some cardiometabolic risk factors were increased in patients with CAH and were associated with clinical, hormonal and treatment parameters of CAH. Cardiometabolic risk should be evaluated regularly in patients with CAH.PMID:37919699 | DOI:10.1186/s12902-023-01499-9 (Source: Atherosclerosis)
Source: Atherosclerosis - November 3, 2023 Category: Cardiology Authors: Tania M Espinosa Reyes Alba Katherine Pes ántez Velepucha Julio Oscar Cabrera Rego Wendy Vald és Gómez Emma Dom ínguez Alonso Henrik Falhammar Source Type: research

Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia
CONCLUSIONS: Some cardiometabolic risk factors were increased in patients with CAH and were associated with clinical, hormonal and treatment parameters of CAH. Cardiometabolic risk should be evaluated regularly in patients with CAH.PMID:37919699 | PMC:PMC10621154 | DOI:10.1186/s12902-023-01499-9 (Source: Atherosclerosis)
Source: Atherosclerosis - November 3, 2023 Category: Cardiology Authors: Tania M Espinosa Reyes Alba Katherine Pes ántez Velepucha Julio Oscar Cabrera Rego Wendy Vald és Gómez Emma Dom ínguez Alonso Henrik Falhammar Source Type: research

Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia
Hyperandrogenism and supraphysiologic glucocorticoid replacement may lead to subclinical atherosclerosis in people with congenital adrenal hyperplasia (CAH) and predispose the development of cardiovascular dis... (Source: BMC Endocrine Disorders)
Source: BMC Endocrine Disorders - November 2, 2023 Category: Endocrinology Authors: Tania M. Espinosa Reyes, Alba Katherine Pes ántez Velepucha, Julio Oscar Cabrera Rego, Wendy Valdés Gómez, Emma Domínguez Alonso and Henrik Falhammar Tags: Research Source Type: research

Hyperandrogenism and Cardiometabolic Risk in Pre- and Postmenopausal Women-What Is the Evidence?
J Clin Endocrinol Metab. 2023 Oct 27:dgad590. doi: 10.1210/clinem/dgad590. Online ahead of print.ABSTRACTHyperandrogenism in women, such as polycystic ovary syndrome, ovarian hyperthecosis, congenital adrenal hyperplasia, and androgen-secreting tumors, are all associated with increased prevalence of cardiovascular risk factors that include type 2 diabetes, hypertension, dyslipidemia, and metabolic syndrome. However, it is not clear whether this also implies enhanced risk of cardiovascular disease and mortality. Furthermore, the involvement of obesity and menopausal status for cardiometabolic risk in these women has not bee...
Source: The Journal of Clinical Endocrinology and Metabolism - October 27, 2023 Category: Endocrinology Authors: Angelica Lind én Hirschberg Source Type: research

Hyperandrogenism and Cardiometabolic Risk in Pre- and Postmenopausal Women-What Is the Evidence?
J Clin Endocrinol Metab. 2023 Oct 27:dgad590. doi: 10.1210/clinem/dgad590. Online ahead of print.ABSTRACTHyperandrogenism in women, such as polycystic ovary syndrome, ovarian hyperthecosis, congenital adrenal hyperplasia, and androgen-secreting tumors, are all associated with increased prevalence of cardiovascular risk factors that include type 2 diabetes, hypertension, dyslipidemia, and metabolic syndrome. However, it is not clear whether this also implies enhanced risk of cardiovascular disease and mortality. Furthermore, the involvement of obesity and menopausal status for cardiometabolic risk in these women has not bee...
Source: The Journal of Clinical Endocrinology and Metabolism - October 27, 2023 Category: Endocrinology Authors: Angelica Lind én Hirschberg Source Type: research