Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report.

Congenital adrenal hyperplasia (CAH) is determined in the vast majority of cases by mutations in the CYP21A2 gene, which cause the deficiency of the 21 hydroxylase enzyme, which is involved in the synthesis of cortisol and aldosterone. Generally, CAH phenotype and disease severity can be predicted with the genotypes and is related to the residual activity of 21 hydroxylase enzyme. It is divided into classical CAH with salt wasting and simple virilizing forms and non-classical or late-onset CAH forms, respectively. Patients with 21 hydroxylase deficiency, including those with non-classic forms face immense challenges to their fertility. Glucocorticoid therapy has been shown to be useful in obtaining and maintaining a pregnancy among these patients, but it must be used with caution. Given the relevance of CAH in reproductive medicine as well as the diagnostic challenges posed by the phenotypic overlap with polycystic ovary syndrome and by overlap of its own phenotypes (classic CAH-nonclassic CAH), we present the case of a woman with CAH due to 21 hydroxylase deficiency caused by the P30L mutation with a clinical and biochemical presentation between the non-classical form and the classic simple virilizing form. Further, the successful fertility management in this patient and an overview of fertility management in CAH is depicted, as well.

Spontaneous remission of Cushing's disease: A systematic review.

Spontaneous remission is rare in Cushing's disease. We describe one illustrative case and provide a systematic review of cases previously reported in the literature. Case report: A 51-year-old woman diagnosed with Cushing's disease underwent 9 months' isolated metyrapone treatment. Two months after end of treatment, she was admitted with acute kidney failure. After another 4 months, in June 2020, there was no evidence of hypercortisolism, either clinically or biochemically, or of hypocortisolism. At the time of writing, 1 year later, she was still in remission. Cases reported in the literature: 23 patients were reported, including the present case. 87% were female with a median age of 32 years. Ten of those with radiologically visible tumors had microadenoma (44%) and 7 had macroadenoma (30%). Mean time from diagnosis to spontaneous remission was 5 months, and was shorter in macroadenoma (1 month) than in microadenoma (13.5 months). Treatments before spontaneous remission were: no treatment (65%), steroidogenesis enzyme inhibitors (22%), bilateral adrenalectomy and adrenal autotransplantation (5%), partial bilateral adrenalectomy (4%), and incomplete pituitary surgery (4%). Pituitary tumor apoplexy was the most frequently incriminated event (91%), radiologically documented in 43% of patients. Mean remission during follow-up was 28 months (range, 6-130 months). Recurrence occurred in 39% (n=9) of patients. Although several mechanisms responsible for this phenomenon have been proposed, clinical or subclinical pituitary tumor apoplexy, the latter sometimes presenting atypically, seems to be the most frequently incriminated event. Doctors should be aware of this, and regular follow-up is mandatory due to its unpredictability.