Refractory hypokalemia with sexual dysplasia and infertility caused by 17α-hydroxylase deficiency and triple X syndrome: A case report.

The present study reports a patient case with a 17α-hydroxylase deficiency accompanied by triple X syndrome. A 17α-hydroxylase deficiency leads to a very low 17α-hydroxylated steroid synthesis as well as a non-feedback increase in the adrenocorticotropic hormone level. Meanwhile, the progesterone level increases the 17α-hydroxyprogesterone level and decreases the dehydroepiandrosterone sulfate level. The patient is characterized by intractable hypokalemia, high urinary potassium, hyperaldosteronemia, hyporeninemia, hypocortisolemia, hypertension, gonadal and secondary sexual dysplasia, a decreased estrogen level, primary amenorrhea, and infertility. The imaging findings indicate a presence of multiple bilateral adrenal gland adenomas, and the sequencing indicates a missense CYP17A1-E7 gene pathogenic variant. The karyotype is a 47, XXX [3]/46, XX [47] low-level chimeric karyotype. The patient's parents are cousins. To our knowledge, this patient is the first case diagnosed with congenital adrenal hyperplasia caused by hydroxylase deficiency and triple X syndrome. The uniqueness of this case is that this patient has two very rare genetic diseases, probably due to the marriage of close relatives.

Association of Glycated Albumin/Glycosylated Hemoglobin Ratio with Blood Glucose Fluctuation and Long-Term Blood Glucose Control in Patients with Type 2 Diabetes Mellitus.

OBJECTIVE: This study aimed to investigate the association of the glycated albumin (GA)/glycosylated hemoglobin (HbA1c) ratio with the mean amplitude of glycemic excursion (MAGE) in type 2 diabetes mellitus (T2DM). METHODS: A total of 102 patients with T2DM who were first treated in Jinjiang Hospital of Fujian Province were enrolled in this study. The patients' general clinical data, including HbA1c, GA, fasting blood glucose, and fasting and peak C-peptide values upon diagnosis and after one year of follow-up, were collected, and their MAGE was calculated. RESULTS: With the increase of the GA/HbA1c ratio at baseline, the patients' fasting and peak C-peptide values decreased gradually from baseline to follow-up, while their MAGE, HbA1c, and fasting blood glucose increased gradually. A regression analysis demonstrated that the baseline MAGE was independently positively correlated with the GA/HbA1c ratio. A Cox regression analysis demonstrated that a baseline GA/HbA1c ratio of >2.78 was an independent risk factor for poor fasting blood glucose and HbA1c. CONCLUSION: The GA/HbA1c ratio is closely related to the MAGE and islet function in patients with T2DM.