Publications by authors named "Onno Eilard Janssen"
Background: Autoimmune thyroiditis (AIT) has been found to be associated with polycystic ovary syndrome (PCOS). The aim of this retrospective cohort study using data from a fertility clinic, with patients recruited from 2009 to 2010, was to confirm the higher prevalence of AIT in PCOS and to evaluate the impact of AIT on reproductive and metabolic parameters of PCOS patients.
Methods: Patients comprised 827 PCOS subjects seen for reproductive or metabolic complaints.
Background: The polycystic ovary syndrome (PCOS), a common endocrine disorder in women of child-bearing age, mainly characterised by chronic anovulation and hyperandrogenism, is often associated with insulin resistance (IR) and obesity. Its etiology and the role of IR and obesity in PCOS are not fully understood. We examined the influence of validated genetic variants conferring susceptibility to obesity and/or type 2 diabetes mellitus (T2DM) on metabolic and PCOS-specific traits in patients with PCOS.
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- A novel mutation of the CYP19 gene causing aromatase deficiency was identified in a 27-year-old male with consanguineous parents, leading to disrupted estrogen production and associated bone issues.
- The patient exhibited certain physical abnormalities but retained normal male secondary sexual characteristics and was treated with transdermal estradiol, which successfully normalized hormone levels and initiated bone maturation.
- After six months of treatment, significant improvements were observed in bone density and age, indicating the critical role of estrogen in bone health and formation.