Diagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD).

Introduction: Biochemical evaluation of 46, XY disorders of sex development(DSD) remains challenging due to overlapping profiles and limited validation in genetically proven cases. We studied the diagnostic accuracy of serum hormonal parameters in a well-characterized cohort.

Methods: Post-hoc hormonal analysis of a prospective study on genetics of 46, XY DSD(n = 165) was performed.

Long-term outcomes of pituitary radiotherapy and their predictive factors in childhood and adolescent-onset Cushing disease.

Objective: Radiotherapy (RT) is an established second-line treatment in adult Cushing disease (CD). Data on pituitary RT in childhood and adolescent-onset CD is scarce. This study aims to demonstrate the effectiveness and long-term safety of fractionated conformal-RT (CRT) in childhood and adolescent-onset CD patients.

Clinical and radiological insights into secondary hypophysitis: A single-center experience with a focus on tuberculosis.

Purpose: Secondary hypophysitis (apart from immune checkpoint inhibitor [ICI] induced) is rare and is largely described in case series. We aim to describe the distinctive characteristics of the various etiologies of secondary hypophysitis from a single center.

Methods: A retrospective record review of 44 patients with secondary hypophysitis (excluding ICI) presenting to our institute between January 2002 and January 2023 was performed.

Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.

Objective: Germline TSHR activating mutation-associated hyperthyroidism (GTAMH) manifests as sporadic or familial forms. Studies have shown poor correlation between receptor activity and clinical manifestations, highlighting a knowledge gap in understanding genotype-phenotype relationships.

Design: A classification based on age of symptom onset: infantile (n = 36), childhood (n = 33) and adulthood (> 18 years, n = 13) was attempted by performing a systematic review of literature of GTAMH (n = 82 probands, including a 25-year-old woman with TSHR p.

Outcomes of 68Ga-NODAGA-Exendin-4 PET/CT Guided Surgical Management of Insulinomas in MEN1: A Preliminary Study.

The data on the use of 68Ga-NODAGA-exendin-4 PET/CT in localizing multiple endocrine neoplasia type 1 (MEN1)-related insulinomas is evolving; however, surgical outcomes data are not available. We describe our cohort of patients with MEN1-related endogenous hyperinsulinemic hypoglycemia (EHH), where 68Ga-NODAGA-exendin-4 PET/CT was used to guide conservative surgery. A retrospective record review of MEN1-related EHH cases managed between 2000 and 2024 was performed for clinical features, imaging, and management.

Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.

Purpose: Data on pediatric/adolescent von Hippel-Lindau (VHL) disease is sparse, and surveillance/management recommendations rely on expert opinions/extrapolations from adults. We aimed to characterize the childhood/adolescent VHL disease phenotype, compare it with adults, and identify genotype-phenotype correlations.

Methods: Retrospective review of children/adolescents (≤ 19 years) and adults with VHL disease from a single endocrine center (2000-2024).

46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.

Purpose: NR5A1 variants are rare causes of 46,XY DSD with scarce literature from India. A systematic review of genotype-phenotype correlation is lacking. We aim to describe clinical, biochemical, histological, and genotype-phenotype correlation in 46,XY DSD with NR5A1 variants.

FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms.

Objective: To compare the phenotypic, biochemical, and genotypic characteristics of hereditary FGF23-mediated hypophosphatemic rickets (FGF23-M-HR) and non-FGF23-mediated hypophosphatemic rickets (non-FGF23-M-HR).

Methods: Clinical, biochemical, and radiological data of genetically proven FGF23-M-HR and non-FGF23-M-HR cases from a single center in western India were compared.

Results: Thirteen probands (6 familial; 11 females) with FGF23-M-HR with median (IQR) age of symptom onset 2.

46, XX DSD with Atypical Genitalia: Clinical Insights and Diagnostic Approaches.

Congenital adrenal hyperplasia (CAH) is a rare disorder with autosomal recessive inheritance; it was historically known as adrenogenital syndrome. Patients with virilizing forms of CAH and a 46,XX karyotype present with varied degrees of hyperandrogenism due to different genetic defects in the adrenal steroidogenesis pathway. This comprehensive review describes a simplified diagnostic approach for patients with atypical genitalia and 46, XX DSD.

Insights in non-CAH pediatric primary adrenal insufficiency: a single-center experience from India.

Objectives: Pediatric primary adrenal insufficiency (PAI) etiologies beyond congenital adrenal hyperplasia (CAH) show regional variations. Given limited data from India, this study aims to describe the etiological profile, phenotype, and genotype of pediatric PAI in an Indian cohort.

Methods: We conducted a retrospective review of patients with PAI onset before 20 years of age from 1998 to 2023 at a single center.

Bilateral macronodular adrenocortical disease: a single centre experience.

Background: Data on bilateral macronodular adrenocortical disease (BMAD) with respect to computed tomography (CT) scan characteristics (attenuation and washout) and long-term follow-up are limited. This study aims to describe BMAD patients managed in a single centre.

Methods: BMAD was defined by the presence of bilateral adrenal macronodules (>1 cm) on CT.

Adolescent primary hyperparathyroidism.

Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care.

High Diagnostic Accuracy of Arterial Phase CT in Differentiating Pheochromocytoma in Good/Poor Washout Adrenal Masses.

Introduction: Differentiating pheochromocytomas from other adrenal masses based on computed tomography (CT) characteristics remains challenging, particularly in lipid-poor lesions with variable washout patterns. This study evaluated CT features for distinguishing pheochromocytomas in good and poor washout subcohorts.

Methods: We prospectively analyzed 72 patients with unilateral lipid-poor adrenal masses.

The polar vessel sign: insights from CT imaging analysis in Asian Indian primary hyperparathyroidism.

Purpose: Data on the polar vessel sign (enlarged feeding vessel terminating in parathyroid lesions) on four-dimensional computed tomography (4D-CT) is limited. We performed a retrospective analysis to determine the prevalence, predictors, and adjunctive utility of polar vessel sign in pre-operative 4D-CT of patients with primary hyperparathyroidism (PHPT).

Methods: One radiologist blinded to the patients' details reported the 4D-CT of eighty-four operated patients with histopathology-proven single-gland PHPT.

Pituitary apoplexy: a comprehensive analysis of 93 cases across functioning and non-functioning pituitary adenomas from a single-center.

Introduction: Pituitary apoplexy (PA) is a rare clinical syndrome due to acute/subacute pituitary hemorrhage and/or infarction; data on PA in functioning pituitary adenoma (FPA) is scarce.

Methods: A retrospective record-review of details of PA in non-functioning (NFPA) and FPA managed at tertiary endocrine center.

Results: 93 patients [56 males; 33.

LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.

Background: The data on Leydig cell hypoplasia (LCH) resulting from biallelic Luteinizing hormone/chorionic gonadotropin receptor (LHCGR) inactivating variants is limited to case series.

Methods: We aim to describe our patients and perform systematic review of the patients with LHCGR inactivating variants in the literature. Detailed phenotype and genotype data of three patients from our centre and 85 (46,XY: 67; 46,XX: 18) patients from 59 families with LHCGR-inactivating variants from literature were described.

Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.

Objective: To describe the genotype-phenotype characteristics of patients with 21-hydroxylase deficiency from western India and ascertain the prevalence of various phenotypes of 21-hydroxylase deficiency.

Methods: Patients with 21-hydroxylase deficiency, diagnosed clinically and biochemically, were prospectively enrolled and classified into salt wasting (SW), simple virilizing (SV), and non-classic (NC) phenotypes and were subjected to genetic testing of CYP21A2 by targeted sequencing and multiplex ligation-dependent probe amplification (MLPA).

Results: Eighty (64; 46, XX) probands with 21-hydroxylase deficiency were analyzed.

Pituitary apoplexy in cushing's disease: a single center study and systematic literature review.

Introduction: Pituitary apoplexy (PA) in Cushing's disease (CD) is rare with data limited to case reports/series.

Methods: We retrospectively reviewed case records of PA in CD managed at our center from 1987 to 2023 and performed a systematic literature review.

Results: We identified 58 patients (44 females), including twelve from our center (12/315 CD, yielding a PA prevalence in CD of 3.

Efficacy and safety of burosumab compared with conventional therapy in patients with X-linked hypophosphatemia: A systematic review.

Burosumab, a monoclonal antibody directed against the fibroblast growth factor 23 (FGF23), has been approved for the treatment of X-linked hypophosphatemia (XLH). We conducted a systematic review to compare the efficacy and safety of burosumab versus conventional therapy (phosphorus and calcitriol) on XLH treatment. After a comprehensive literature search on MEDLINE/PubMed and Embase, we found nine studies for inclusion in the analysis.

Update on Primary Aldosteronism: Time to Screen All Hypertensives.

Primary aldosteronism (PA), characterized by autonomous renin-independent aldosterone production, is the most common endocrine cause of hypertension. PA was initially considered a rare cause of secondary hypertension, as experts described 0.451% prevalence in mild to moderate hypertension when hypokalemia was an essential reason for screening.

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Objective: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. A systematic review of phenotype-genotype correlation and data on testicular histology in LCAH patients is unavailable. We aim to describe our experience and provide phenotype-genotype correlation.

Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.

Introduction: Fanconi renotubular syndromes (FRTS) are a rare group of inherited phosphaturic disorders with limited Indian as well as global data on this condition. Here, we describe the experience of a single Endocrinology center from Western India on FRTS.

Materials And Methods: Comprehensive clinical, biochemical, radiological, management, and genetic details of FRTS patients managed between 2010 and 2023 were collected and analyzed.

Overnight 1-mg DST Serum Cortisol in Various Stages of Chronic Kidney Disease-Normative Data and Underlying Mechanisms.

Context: Data on the overnight 1 mg-dexamethasone suppression test (ONDST) in renal dysfunction are limited.

Objective: We aim to determine the normative range of ONDST cortisol across chronic kidney disease (CKD) stages and reasons for its alteration.

Methods: Prospectively, 180 CKD (30 each in G2-G5/5D) patients and 30 healthy controls underwent ONDST 8 Am serum cortisol (chemiluminescent immunoassay [CLIA]).