A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping.

Congenital adrenal hyperplasia (CAH) consists of variable disorders of sex determination and differentiation. 17α-hydroxylase deficiency (17OHD) is an uncommon form of those disorders, which is typically characterized by hypertension, hypokalemia, failure of puberty, and ambiguous genitalia. The 17α-hydroxylase enzyme is encoded by the CYP17A1 gene and it is required for the synthesis of cortisol and sex steroids.

Clinical Features, Therapeutic Trends, and Outcome of Giant Prolactinomas: A Single-Center Experience Over a 12-Year Period.

Background: Management of giant prolactinomas presents a different challenge than the management of traditional prolactinomas.

Objective: The aim of this study was to report the largest long-term single-center study of giant prolactinomas to analyze their clinical features; define epidemiological characteristics, comorbidities, complications, treatment outcomes; and to demonstrate our experience with long-term cabergoline (CAB) treatment of these giant tumors.

Methods: A retrospective case study and clinical review of patients presenting with giant prolactinomas in the pituitary clinic at King Fahad Medical City (KFMC), Riyadh, Saudi Arabia, in the period between 2006 and 2018 were included in the study.

Association of Glycosylated Hemoglobin Levels With Vitamin D Status.

Background: The discovery of vitamin D is one of medicine's great achievements. Despite all the positive evidence emerging about the beneficial effect of vitamin D, we still find many are vitamin D deficient. The purposes of this study were to examine the association between serum 25-hydroxyvitamin D (25(OH)D) and glycosylated hemoglobin (HbA1c) levels, to test the hypothesis that lower 25(OH)D levels are associated with poorer glucose control in diabetes mellitus (DM) patients and to investigate the effect of vitamin D supplementation on HbA1c levels.

Glycemic control and pregnancy outcomes in patients with diabetes in pregnancy: A retrospective study.

Context: Diabetes in pregnancy (DIP) is either pregestational or gestational.

Aims: To determine the relationship between glycemic control and pregnancy outcomes in a cohort of DIP patients.

Settings And Design: In this 12-month retrospective study, a total of 325 Saudi women with DIP who attended the outpatient clinics at a tertiary center Riyadh, Saudi Arabia, were included.

Carbonic Anhydrase II Deficiency in a Saudi Woman.

Objective: Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. Our aim is to present a patient with the classic triad of CA II deficiency syndrome to enhance the awareness about this rare syndrome.

Methods: We describe the clinical and radiological findings of a Saudi woman patient with CA II deficiency syndrome.