Chorioretinal lacuna in the amniotic band syndrome.

The malformations in the amniotic band syndrome (ABS) are due to entrapment of fetal parts by fibrous band in the amniotic sac. Limbs are most commonly affected followed by craniofacial defects in one third of patients. Ocular defects include corneal leukomas and lid colobomas often contiguous with facial clefts, strabismus, hypertelorism, and microphthalmos. Unilateral chorioretinal defects or lacunae are rare findings in the ABS. We report a female infant with such a lacunar defect along with central nervous abnormalities, and discuss the differential diagnosis and the embryopathic implications

Endocrine manifestations in Langerhans cell histiocytosis

Langerhans cell histiocytosis is a rare, multisystem disease that shows a particular predilection for hypothalamo-pituitary axis involvement. Diabetes insipidus is the most frequent permanent consequence of Langerhans cell histiocytosis, developing in around a quarter of patients. Although the exact prevalence of anterior pituitary hormone deficiencies is not known, it is probably high and is almost always associated with diabetes insipidus. Established pituitary hormone deficiencies are mostly permanent and require prompt diagnosis and treatment, whereas continuous follow-up is needed to detect deficiencies that might evolve later during the course of the disease. Involvement of endocrine tissues other than the pituitary has also been described but is relatively rare. Further studies are needed to evaluate the effect that endocrine deficiencies exert on the overall prognosis of patients with Langerhans cell histiocytosis. © 2007 Elsevier Ltd. All rights reserved

Surgical treatment outcome of primary aldosteronism assessed using new modified diagnostic tests

Purpose: Primary aldosteronism (PA) is the most frequent type of endocrine hypertension. In our previous studies, we introduced two modified diagnostic tests for PA, the post-dexamethasone saline infusion test (DSIT) and the overnight dexamethasone, captopril, and valsartan test (DCVT). In this study, we aimed to validate both tests in respect to the biochemical and clinical response of a cohort of hypertensive patients in pre- and post-surgical setting. Methods: We retrospectively studied 41 hypertensive patients (16 males), with a median (IQR, range) age of 50 (16, 35–74) years and positive histology for adrenal adenoma. Preoperatively, all patients had a single adenoma on CT and a diagnosis of PA with either DSIT or DCVT. The defined daily dose (DDD) of hypertensive drugs was assessed pre- and postoperatively. DSIT or DCVT and basal ARR were reassessed postoperatively. Results: Two of the 41 patients failed to suppress aldosterone post-surgery, leading to a post-adrenalectomy biochemical cure rate of 95%, while blood pressure was improved in 36 patients, leading to a clinical cure rate of 88% as assessed by the DDD methodology. Conclusions: The present study was a proof-of-concept process to validate two modified diagnostic tests for PA in clinical practice. These tests, used to diagnose a group of patients with PA, successfully assessed their biochemical cure post-adrenalectomy at rates similar to those reported in the literature. © 2021, Hellenic Endocrine Society

High prevalence of autonomous cortisol and aldosterone secretion from adrenal adenomas

Objectives Previous studies based on standard endocrine testing have shown a variable incidence of autonomous cortisol secretion (ACS) or autonomous aldosterone secretion (AAS) in patients with single adrenal adenomas (SAA). We tested whether the use of appropriate controls and modification of standard testing, aiming at eliminating interference from endogenous ACTH, reveals previously undetected subtle ACS and AAS by SAA. Design Case control study. Patients We investigated 151 patients with SAA and 72 matched controls with normal adrenal computerized tomography. Measurements All participants had arterial blood pressure recorded, and serum cortisol and aldosterone measured before and after intravenous administration of 250 μg of ACTH, and following dexamethasone administration. Eighty-three patients and all the controls had serum aldosterone and renin measured before and after saline infusion, and after a second saline infusion following dexamethasone administration. Results Using the mean + 2 SD values obtained from controls after dexamethasone administration and saline infusion following dexamethasone administration, normal cut-off values for cortisol (30·11 nm), aldosterone (67·59 pm), and aldosterone/renin ratio (9·74 pm/mU/l) were developed. Using these cut-off values, the estimated incidence of ACS and AAS in patients with SAA was 56·63% and 24·10%, respectively, whereas 12·05% had autonomous secretion of both cortisol and aldosterone. Systolic and diastolic arterial blood pressure correlated significantly with the aldosterone/renin ratio following αCTH stimulation (P < 0·0002 and P < 0·001, respectively), and after saline infusion following dexamethasone administration (P < 0·003 and P < 0·002, respectively). Conclusions By applying new cut-offs, ACS and AAS in patients with a SAA is very common, and aldosterone secretion correlates with arterial blood pressure. © 2009 Blackwell Publishing Ltd