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. The affected females with 17OHD usually present with primary amenorrhea and delayed puberty, which are associated with hypertension and hypokalemia while male patients might show female external genitalia, pseudohermaphroditism, or variable degrees of ambiguous genitalia with intra-abdominal testes in addition to hypertension and hypokalemia as well. We present two Saudi siblings (19 and 16 years old) who were diagnosed with the rare CAH subtype of 17OHD after presenting with long-standing hypertension, refractory hypokalemia, and failure of puberty. It is interesting that both siblings had biochemical primary adrenal insufficiency; however, both patients did not clinically present with an acute adrenal crisis, which is likely due to the effect of increased levels of deoxycorticosterone. Additionally, although both patients have similar phenotypes and clinical presentations, they have different karyotypes. This again highlights the variability of the manifestations that can result from 17OHD even with an identical mutation in the same family. Both patients were treated successfully with dexamethasone, which has led to the normalization of hypertension, resolution of hypokalemia, and discontinuation of anti-hypertensive medications and potassium supplements after several years of treatment. However, the entire management is quite challenging and requires a multidisciplinary approach regarding difficult issues such as gender identity and assignment and fertility issues in addition to a life-long follow-up.

Glycemic Variability in Type 1 Diabetes Mellitus Saudis Using Ambulatory Glucose Profile.

BACKGROUND: Glucose variability (GV) is a common and challenging clinical entity in the management of people with type 1 diabetes (T1DM). The magnitude of GV in Saudi people with T1DM was not addressed before. Therefore, we aimed to study GV in a consecutive cohort of Saudis with T1DM. METHODS: We prospectively assessed interstitial glucose using FreeStyle® Libre flash glucose monitoring in people with TIDM who attended follow-up in the diabetes clinics at King Fahad Medical City between March and June 2017. Glycemia profile, standard deviation (SD), coefficient of variation (CV), mean of daily differences (MODD), and mean amplitude of glucose excursion (MAGE) were measured using the standard equations over a period of 2 weeks. RESULTS: Fifty T1DM subjects (20 males) with mean age 20.2 ± 6.1 years and mean fortnight glucose 192 ± 42.3 mg/dl were included. The mean SD of 2-week glucose readings was 100.4 ± 36.3 mg/dl and CV was 52.1% ± 13%. Higher levels of glucose excursions were also observed. MODD and MAGE were recorded as 104.5 ± 51.7 and 189 ± 54.9 mg/dl, respectively which is 2 to 4 times higher than the international standards. Higher MODD and MAGE were observed on weekends compared to weekdays (111.3 ± 62.1 vs 98.6 ± 56.2 mg/dl and 196.4 ± 64.6 vs 181.7 ± 52.4 mg/dl, respectively; P ⩽ .001). CONCLUSION: Higher degree of glycemic variability was observed in this cohort of TIDM Saudis. Weekends were associated with higher glucose swings than weekdays. More studies are needed to explore these findings further.

Cabergoline-Induced Pneumocephalus Following Treatment for Giant Invasive Macroprolactinoma Presenting With Spontaneous Cerebrospinal Fluid Rhinorrhea.

Cerebrospinal fluid (CSF) rhinorrhea is rarely reported as the first presenting feature of giant invasive macroprolactinomas. Cerebrospinal fluid rhinorrhea is usually reported as a complication of trauma, neurosurgical, and skull-based procedures (such as pituitary surgery or radiations), and less frequently after medical treatment with dopamine agonists (DAs) for macroprolactinomas. This phenomenon results from fistula creation that communicates between the subarachnoid space and the nasal cavity. Meanwhile, pneumocephalus is another well-recognized complication after transsphenoidal surgery for pituitary macroadenomas. This entity may present with nausea, vomiting, headache, dizziness, and more seriously with seizures and/or a decreased level of consciousness if tension pneumocephalus develops. Case reports about the occurrence of spontaneous pneumocephalus after medical treatment with DAs without prior surgical interventions are scarce in the literature. Our index case is a young man who was recently diagnosed with a giant invasive prolactin-secreting pituitary macroadenoma with skull base destruction. A few months before this diagnosis, he presented with spontaneous CSF rhinorrhea with no history of previous medical or surgical treatment. In this case report, we report an uncommon presentation for giant invasive macroprolactinoma with a CSF leak treated with cabergoline that was subsequently complicated by meningitis and pneumocephalus. This is a very rare complication of cabergoline therapy, which occurred approximately 1 month after treatment initiation.