Publications by authors named "Sophie Ouzounian"

Objective: Pneumocystis pneumonia (PcP) is an opportunistic infection occurring in immunocompromised patients. Cushing's syndrome (CS) impairs the immune system, and several authors have reported PcP in patients with CS. The present study aimed to characterize PcP occurring in a CS context and its management in French tertiary centers, in order to highlight the similarities in clinical presentation and treatment according to whether prophylaxis is implemented or not.

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Context: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism (PHPT) but not curable by surgery; FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively.

Objective: This study aimed to compare the phenotypes of patients with genetically proven FHH types 1 or 3 or PHPT.

Design, Setting, And Patients: This was a mutation analysis in a large cohort, a cross-sectional comparison of 52 patients with FHH type 1, 22 patients with FHH type 3, 60 with PHPT, and 24 normal adults.

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Hirsutism induced by hyperandrogenism can be associated with polycystic ovary syndrome, 21-hydroxylase (OH) deficiency or androgen-secreting tumors, including ovarian and adrenal tumors. Adrenal androgen-secreting tumors are frequently malignant. Adrenal oncocytomas represent rare causes of hyperandrogenism.

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Article Synopsis
  • Laminopathies caused by LMNA mutations can lead to early aging and lipodystrophic syndromes, while this study connects lipodystrophy and insulin resistance to Werner syndrome caused by WRN mutations.
  • Two normal-weight women aged 32 and 36 displayed partial lipodystrophic syndrome with features like high triglycerides, liver fat, and significant insulin resistance, along with distinct fat distribution patterns.
  • Genetic testing revealed biallelic WRN mutations in both patients, affecting their fertility, while insulin-sensitizing treatments helped them conceive, though pregnancies were complicated by severe cervical incompetence.
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Progesterone antagonists belong to the family of selective progesterone receptor modulators. SPRMs already have several applications in women's health. Their main value lies in their effect on endometrium.

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Progesterone-receptor modulators (PRMs) are progesterone-receptor ligands that can exert agonistic, antagonistic or mixed agonist-antagonist effects depending on the cellular context. The mechanisms of action of these compounds are still incompletely understood. PRMs already have several applications in women's health such as emergency contraception, pregnancy termination, management of early fetal demise and cervical maturation.

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Currently developed progesterone receptor modulators (PRMs) are steroid-derived compounds with mild or potent antiprogestin activity. PRMs may exert a contraceptive activity by different mechanisms such as blockade of ovulation and endometrial desynchronization. Their potential clinical applications are manifold and are very promising in major public health areas, including emergency contraception, long term oestrogen-free contraception (administered alone, or in association with a progestin-only pill to improve bleeding patterns), endometriosis and myoma treatment.

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Postmenopausal age women have an increased risk of cardiovascular diseases, osteoporosis, and gynaecological cancers. A regular follow up is necessary to evaluate the interest of HRT, and for screening cardiovascular diseases and gynaecologic cancers. Patient counselling includes life style modifications, follow-up and regular evaluation of risk factors and potential benefit of HRT for each woman.

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Menopause is a natural phenomenon consisting in follicles atresia and decrease in ovarian hormonal secretions. The mean age of menopause is 51 years. It is known that follicles atresia is partially explained by genetics factors.

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