No abstract

First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. The responsible gene, DCAF17 located on chromosome 2q31.1, was discovered in 2008 and to date nine mutations have been reported in the literature. The aim of the study was to review WSS descriptively in the light of new case reports with focus on endocrine features. Phenotypic description of three patients (two females, one male) with WSS followed in the Endocrinology Department of the University Hospital of Nancy, France, and exhaustive review of the literature using the PUBMED database were performed. Of 72 patients from 29 families with documented WSS who were identified, 39 had undergone genetic testing. WSS was invariably associated with hypogonadism, decreased IGF1 and frontotemporal alopecia starting in childhood. In addition to this triad, some patients exhibited intellectual disabilities of varying severity (87 %), bilateral deafness (76 %), cervicofacial dystonia and limb pain (42 % of cases, rising to 89 % after 25 years) and diabetes (66 %, rising to 96 % after 25 years). The pathophysiology of WSS remains unclear.

Primary hyperparathyroidism (PHPT) is one of the most common endocrine disorders for which parathyroidectomy is the most effective therapy. Until late 1970s, the standard approach to parathyroidectomy was a four-gland exploration using a large skin incision. However, 80 to 85 percent of cases of PHPT are caused by a single adenoma. As such, the concept of performing a bilateral exploration in order to visualize all four glands has been argued to be excessive since in the majority of cases, there is only one abnormal gland. Focused exploration (one gland) is currently the standard technique for parathyroidectomy worldwide. Despite a rapid acceptance of minimally invasive approaches in most endocrine surgery centers, the use of an endoscope with or without the use of a robotic system to perform parathyroidectomy remains controversial. The goal of this study was to review current available data about surgical approaches using an endoscope with or without the use of a robotic system in the management of

Currently laparoscopic adrenalectomy (LA) is regarded as the preferred surgical approach for the management of most adrenal surgical disorders. Despite the benefits of LA, the procedure has shortcomings that are shared by other laparoscopic techniques. Commonly noted problems include the absence of 3-dimensional perception, reduced dexterity, and poor ergonomics for the surgeon. Recently, robotic technology has been introduced into laparoscopic clinical practice. The requirement for precise surgery in adrenalectomy is important, and the introduction of robotically assisted LA offers new possibilities. This review summarizes current available data regarding robotic adrenalectomy, including its indications, advantages, limitations, and comparison with conventional laparoscopic adrenalectomy. See the videos, Supplemental Digital Content 1, http://links.lww.com/SLE/A33, Supplemental Digital Content 2, http://links.lww.com/SLE/A34 and Supplemental Digital Content 3, http://links.lww.com/SLE/A35.

Neurosurgery ultimately led to complete disease remission or to biochemical control in majority of patients, whereas resulting in a considerable percentage of post-operative complications (mainly hypopituitarism, 50%). In the light of the optimal results unanimously reported for medical treatment with SSA, our experience suggests that a careful evaluation of risk/benefit ratio should be taken into consideration when directing the treatment approach in patients with TSHoma.