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Survey of Ophthalmology 2023Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including... (Review)
Review
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic literature search was conducted in electronic databases Pubmed/MEDLINE, EMBACE, and Cochrane Library. We included studies reporting patients with a clinical picture consisting at least 2 typical clinical manifestations of WSF1 disorders and heterozygous mutations in WFS1. In total, 86 patients from 35 studies were included. The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. Nineteen percent developed cataract. Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developing diabetes insipidus, but a younger age at onset of hearing impairment compared to patients with nonsense mutations or deletions causing frameshift. There were no studies reporting decreased life expectancy. This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with the specific underlying mutations in the WFS1 gene.
Topics: Humans; Hearing Loss; Mutation; Optic Atrophy; Tungsten; Wolfram Syndrome
PubMed: 36764396
DOI: 10.1016/j.survophthal.2023.01.012 -
Cureus Aug 2023Sarcoidosis is an inflammatory condition that can impact multiple organs in the body such as the lungs, skin, eyes, and, occasionally, the central nervous system. When...
Sarcoidosis is an inflammatory condition that can impact multiple organs in the body such as the lungs, skin, eyes, and, occasionally, the central nervous system. When sarcoidosis affects the nervous system, it is referred to as neurosarcoidosis and is estimated to occur in approximately 5%-15% of sarcoid patients. When neurosarcoidosis affects the pituitary gland, it can result in panhypopituitarism, which can be life-threatening. A 35-year-old male with a known diagnosis of sarcoidosis by skin biopsies presented to the hospital with altered mental status, hypernatremia, hypotension, and hypothermia. He reported symptoms of polyuria and polydipsia for several weeks before admission. Laboratory workup revealed elevated serum sodium at 167 mmol/L, high serum osmolality at 381 mOsm/kg, and low urine osmolality at 381 mOsm/kg, consistent with diabetes insipidus. Anterior pituitary hormone profile workup revealed low 8 am serum cortisol (1.9 mcg/dL) and inappropriately normal adrenocorticotropic hormone (ACTH) (34 pg/ml), low serum free testosterone (<2.5 ng/dL), low luteinizing hormone (0.7 mIU/ml), low follicular stimulating hormone (< 2.6 mIU/ml), low free T4 at 0.4 ng/dL. and inappropriately normal thyroid-stimulating hormone (TSH) at 2.77 uIU/mL. Serum prolactin was mildly elevated at 86.8 ng/mL. Angiotensin-converting enzyme level was within the normal range at 33 U/L. A diagnosis of panhypopituitarism was made. Brain MRI revealed a 3 cm mass in the suprasellar region involving the hypothalamus and bilateral optic tracts with a mass effect on the anterior third ventricle. No discrete pituitary or stalk lesion was identified. A ventriculostomy tube was placed for developing hydrocephalus. A biopsy of the suprasellar mass revealed non-caseating granuloma, confirming neurosarcoidosis. Treatment was initiated with high-dose IV corticosteroids to manage secondary adrenal insufficiency and neurosarcoidosis. He was also started on IV desmopressin and IV levothyroxine to manage his diabetes insipidus and central hypothyroidism. He was transitioned to oral therapy upon discharge. Panhypopituitarism secondary to neurosarcoidosis is a rare presentation that can occur due to the infiltration of the pituitary gland or the infiltration of the hypothalamus affecting the hypothalamic-pituitary axis. Neurosarcoidosis should be considered a differential when evaluating patients with symptoms consistent with panhypopituitarism. Prompt diagnosis and initiation of corticosteroids and deficient hormones can be lifesaving.
PubMed: 37692696
DOI: 10.7759/cureus.43169 -
Frontiers in Endocrinology 2023Copeptin is cleaved from the same precursor as arginine vasopressin and is released in equimolar amounts with arginine vasopressin from the posterior pituitary in... (Review)
Review
Copeptin is cleaved from the same precursor as arginine vasopressin and is released in equimolar amounts with arginine vasopressin from the posterior pituitary in response to the same stimuli. Its level of stability in the blood, quick and simple analysis, and ease of automation make it much easier to analyze than arginine vasopressin, thereby offering a suitable alternative to measuring arginine vasopressin in endocrine disorders. Research has demonstrated the suitability of copeptin in adults for the differentiation of arginine vasopressin resistance and arginine vasopressin deficiency from primary polydipsia, in addition to the early identification of arginine vasopressin deficiency following pituitary surgery; however, further research is still required in the Syndrome of Inappropriate Antidiuretic Hormone (SIADH) and the pediatric population.
Topics: Child; Adult; Humans; Diabetes Insipidus, Neurogenic; Glycopeptides; Arginine Vasopressin; Arginine
PubMed: 37859988
DOI: 10.3389/fendo.2023.1230045