Publications by authors named "Maryse Cartigny"
Article Synopsis
- APECED syndrome is a rare genetic disorder caused by mutations in the AIRE gene, typically characterized by a triad of symptoms including hypoparathyroidism, adrenal failure, and chronic mucocutaneous candidiasis (CMC), along with other non-endocrine issues.
- In a national study involving 25 patients from 23 families, researchers identified 11 different variants of the AIRE gene, including two previously unreported variants, and found that a majority of patients displayed multiple clinical manifestations.
- The study revealed significant immunological disturbances, such as NK cell lymphopenia and altered B lymphocyte homeostasis, and highlighted a variety of non-endocrine symptoms that could potentially be life-threatening, emphasizing the need for
Article Synopsis
- The study analyzed changes in the diagnosis and management of patients with two types of genetic deficiencies (SRD5A2 and HSD17B3) from 1994 to 2020, focusing on current diagnostic practices.
- Out of 52 patients, over half were diagnosed at birth, with a trend showing earlier diagnoses for those born after 2007, and a notable shift in initial sex assignment from predominantly female to increasingly male.
- Genetic testing revealed a variety of mutations in both genes, and the study concluded that there’s been a significant change in clinical approaches and therapeutic interventions based on evolving understanding of these conditions.
Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network.
Diabetes Obes Metab
August 2022
Aim: To describe baseline characteristics and follow-up data in patients with lipodystrophy syndromes treated with metreleptin in a national reference network, in a real-life setting.
Patients And Methods: Clinical and metabolic data from patients receiving metreleptin in France were retrospectively collected, at baseline, at 1 year and at the latest follow-up during treatment.
Results: Forty-seven patients with lipodystrophy including generalized lipodystrophy (GLD; n = 28) and partial lipodystrophy (PLD; n = 19) received metreleptin over the last decade.
Defining Reference Ranges for Serum Anti-Müllerian Hormone on a Large Cohort of Normozoospermic Adult Men Highlights New Potential Physiological Functions of AMH on FSH Secretion and Sperm Motility.
J Clin Endocrinol Metab
June 2022
Article Synopsis
- * Results showed a median serum AMH of 43.5 pmol/L and identified significant correlations between AMH levels, sperm concentration, and various reproductive hormones, indicating AMH's role in male fertility.
- * The research also discovered the expression of AMH type II receptors in sperm and pituitary cells, suggesting new potential roles for AMH in influencing sperm motility and hormone secretion in men.
Article Synopsis
- Primary ovarian insufficiency (POI) is the early loss of ovarian function before age 40, with 20-25% of cases having genetic origins, particularly involving the NR5A1/SF-1 gene.
- This study outlines two families where DGD and POI diagnoses led to identifying harmful variations in the NR5A1 gene, detailing their clinical and genetic features.
- The findings include new NR5A1 gene variants in both families, emphasizing the importance of genetic counseling for those with POI or diminished ovarian reserve connected to DGD in their family.
The above article was published online with an incorrect author name.
View Article and Find Full Text PDFThis consensus article elaborated by the European Society for Paediatric Radiology task force on gastrointestinal and genitourinary imaging is intended to standardize the imaging approach in newborns with disorders of sex development. These newborns represent a difficult and stressful situation necessitating a multidisciplinary team approach. Imaging plays an important role in the work-up but needs to be optimized and customized to the patient.
View Article and Find Full Text PDFCHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM#213002) associates hypomyelination, cerebellar atrophy, hypogonadism and hypodontia. So far, only five patients have been described. The condition is of neonatal onset.
View Article and Find Full Text PDFBackground: Genital surgery in Disorders of Sex Development (DSD) has been an area of debate over the past 20 years. Emerging scientific evidence in the late 1990s defied the then routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.
View Article and Find Full Text PDFClinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
J Clin Endocrinol Metab
June 2015
Context: Outcomes of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) have been widely studied in children and women, but less so in men.
Objective: The objective was to analyze data from a network of metropolitan French teaching hospitals on the clinical outcome of classic 21OHD in a large sample of congenital adrenal hyperplasia/21OHD-genotyped adult men, and particularly the impact of 21OHD on the gonadotrope axis, testicular function, and fertility.
Methods: From April 2011 to June 2014, tertiary endocrinology departments provided data for 219 men with 21OHD (ages, 18-70 y; 73.
Context: In 46,XY disorders of sex development, 5α-reductase deficiency is rare and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to partial androgen insensitivity syndrome. Yet the cause of ambiguous genitalia may guide sex assignment, and rapid, precise diagnosis of 5α-reductase deficiency is essential.
Objective: The aim of the study was to describe relevant data for clinical diagnosis, biological investigation, and molecular determination from 55 patients with srd5A2 mutations identified in our laboratory over 20 yr to improve early diagnosis.
We present the case of a maternal heterodisomy for chromosome 7 in the daughter of a t(7;16)(q21;q24) reciprocal translocation carrier. The proband was referred to the hospital for growth retardation and minor facial dysmorphism without mental retardation. A diagnosis of Silver-Russell syndrome was suspected.
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