Salivary gland stones are most common in the A rare case of multiple submandibular duct (Wharton's duct) calculi of unusual size and shape in a 42-year-old male patient, who presented with pain and swelling in the region small stone comes out into the mouth on its own or with

Purpose: There is limited data regarding Pituitary Stalk Interruption Syndrome (PSIS) from India. Moreover, the pathophysiological link between perinatal events and PSIS is unclear. We aim to elucidate the predictors of PSIS among patients with growth hormone de ciency (GHD) and perinatal events in PSIS by comparing cohorts of PSIS and genetically proven GHD without PSIS.Methods: Among 179 GHD patients, 56 PSIS and 70 genetically positive GHD (52-GHRHR, 15-POU1F1, and 3-PROP1) patients were included. Perinatal events, clinical anomalies, pituitary hormone de ciency, and imaging ndings were recorded. We compared subgroup of PSIS-isolated GHD (PSIS-IGHD) with GHRHR-IGHD and subgroup of PSIS-combined pituitary hormone de ciency (PSIS-CPHD) with POU1F1/PROP1-CPHD.Results: PSIS patients (45 males, median age: 12.5 years) most commonly presented with short stature. At last follow up (median age: 17.35 years), gonadal (during pubertal-age), thyroid and cortisol axes were affected in 81.6%, 62.5%, and 62.5%. 10/13 (77%) of PSIS children with initial IGHD diagnosis manifested hypogonadism during pubertal age. Male predominance, sporadic presentation, clinical anomalies were signi cantly higher in both PSIS subgroups than the respective genetic subgroups. Breech presentation was higher in PSIS-CPHD than POU1F1/PROP1-CPHD (44.4% vs 5.5%, p=0.004). Neonatal hypoglycemia (22% vs. 0%, p=0.05) and jaundice (42 vs. 5%, p=0.004) were higher in PSIS-CPHD than PSIS-IGHD.Conclusion: Later age at presentation and frequent hypogonadism were observed in our PSIS cohort. Male sex, sporadic presentation, clinical anomalies, and breech presentation predicted PSIS at presentation. Breech presentation in PSIS is likely due to stalk interruption rather than hormonal de ciency.

Introduction: Role of glucocorticoids in primary autoimmune hypophysitis (PAH) has been fraught with variability in regimens leading to inconsistent outcomes in terms of anterior pituitary (AP) hormonal recovery. Hence, we aimed to compare the clinical, hormonal, and radiological outcomes of the standardized high-dose glucocorticoid therapy group (GTG) in PAH with a matched clinical observation group (COG). Methods: 39 retrospective patients with PAH, evaluated and treated at a single center in Western India from 1999-2019 with a median follow-up duration of 48 months were subdivided into GTG (n=18) and COG (n=21) and compared for the outcomes Results: Baseline demographic, hormonal, and radiological features matched between the groups except pituitary height, which was significantly higher in GTG. Cortisol, thyroid, and gonadal axes were affected in 25 (64%), 22 (56%), and 21 (54%) respectively and central diabetes insipidus was seen in 7 (18%) patients. Panhypophysitis (PH) was the most common radiological sub-type (n=33, 84.6%) . The resolution of mass effects was similar in both groups. Overall and complete AP hormonal recovery was significantly higher in GTG compared to COG[12/14 (85.7%) vs. 6/14 (42.8%), p=0.02; 10/14 (71.4%) vs. 1/14 (7.7%), p=0.0007, respectively]. Proportion of cases with empty sella were significantly higher in COG [9/20 (45%) vs 1/17 (5.9%), p= 0.001). Among PH patients in GTG (n=17), we found duration from symptoms-onset to treatment as the predictor of recovery Conclusion: In a PH subtype-predominant PAH cohort, a standardized high-dose glucocorticoid regimen resulted in higher overall and complete AP hormonal recovery than COG. Initiation of glucocorticoids in the early disease course may have been contributory.

Objectives: To describe Asian Indian patients with 17β hydroxysteroid dehydrogenase 3 (17βHSD3) deficiency and to perform a systematic review to determine the factors influencing gender role in 46,XY disorder of sex development (DSD) due to 17βHSD3 deficiency. Patients and Design:We present the phenotypic and genotypic data of 10 patients (9 probands and 1 affected family member) with 17βHSD3 deficiency from our 46,XY DSD cohort (N = 150; Western India) and a systematic review of 152 probands with genetically proven, index 17βHSD3 deficiency patients from the world literature to identify the determinants of gender role.Results: 17βHSD3 deficiency was the third most common (6%) cause of nondysgenetic 46,XY DSD in our cohort. Five patients each had prepubertal (atypical genitalia) and pubertal (primary amenorrhoea) presentations. Six patients were initially reared as female of whom two (one each in prepubertal and pubertal age) changed their gender role. Ten pathogenic molecular variants (six novel) were observed. In the systematic review, initial male sex of rearing was uncommon (10.5%) and was associated with atypical genitalia, higher testosterone/androstenedione (T/A) ratio and Asian origin. Gender role change to male was seen in 10.3% of patients with initial female sex of rearing and was associated with Asian origin but unrelated to pubertal androgens or molecular variant severity. It has not been reported in patients of European origin. Conclusions:We report the first Indian case series of 17βHSD3 deficiency, the third most common cause of 46,XY DSD, with six novel molecular variants. Distinct geographical differences in the frequency of initial male sex of rearing and gender role change to male in those initially reared as females in 17βHSD3 deficiency were noted which needs further evaluation for the underlying molecular mechanisms.

Objectives: High-dose glucocorticoids are associated with improved recovery of deficits in primary autoimmune hypophysitis (PAH), but optimal dosing, route, and duration are unclear. Design: We reviewed literature for first-line glucocorticoid treatment in PAH until December 2021 and performed an individual-patient data meta-analysis to analyze clinical, hormonal, and radiological outcomes with respect to route, dose, and duration (<6.5 vs. 6.5-12 vs. >12 weeks) of glucocorticoid treatment according to disease severity. Results: 153 PAH patients from 83 publications were included. The median age at presentation was 41(32.5-48) years with a female preponderance (70.3%). Visual field recovery was significantly better with intravenous (91.7%) as compared to oral (54.5%) route, high dose (100%) and very-high dose (90.9%) as compared to medium dose (20%) of glucocorticoids. Corticotroph axis recovery was greater in intravenous (54.8% vs. 28.1% oral, p=0.033) route and increasing glucocorticoid dose group (0% vs. 38.1% vs. 57.1%), attaining statistical significance (p=0.012) with very high-dose. A longer duration of treatment (>6.5 weeks) was associated with better corticotroph and thyrotroph recovery. Need for rescue therapy with lower with intravenous route (38% vs 17.5%, p=0.012) and with increasing glucocorticoid doses (53.3% vs. 34.3% vs. 17.3%, p=0.016). In severe disease, visual field and corticotroph axis recovery was significantly higher with intravenous route and very-high dose steroids. The adverse effects of glucocorticoids were independent of dose and duration of treatment. Conclusions: Very high-dose glucocorticoids by intravenous route and cumulative longer duration (>6.5 weeks) lead to better outcomes and could be considered as first-line treatment of severe PAH cases.