20 citations
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July 1998 in “Annals of Clinical Biochemistry International Journal of Laboratory Medicine” This case study details a 56-year-old man with initial misdiagnosed Addison's disease who was later found to have hypogonadotrophic hypogonadism and secondary hypothyroidism.
November 2025 in “Вопросы современной педиатрии” In this case report, the researchers observed that combining growth hormone therapy with the biologic drug dupilumab effectively improved growth and health outcomes in a patient with Netherton syndrome and comorbid hypopituitarism, suggesting a multidisciplinary approach may be beneficial for managing such cases.
2 citations
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October 2022 in “Frontiers in genetics” This case report describes a 46-year-old Italian woman with congenital adrenal hyperplasia who experienced significant improvements in physical and psychological health after receiving a delayed diagnosis and subsequent treatment.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
July 2020 in “Endocrine practice” This case report details a 13-year-old boy with Cushing syndrome, where BIPSS identified the pituitary gland as the cortisol excess source and hormonal tests showed suppressed puberty markers.