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.

Multimodality Evaluation of Persistent Hyperparathyroidism in a Rare Case of Ectopic Submandibular Parathyroid Adenoma.

A 53-year-old woman of primary hyperparathyroidism with both ultrasound neck examination and planar 99m Tc-MIBI scan being negative revealed a tracer-avid focus in the left submandibular region in early (15 minutes postinjection) 99m Tc-MIBI SPECT/CT views, raising a suspicion of rare ectopic parathyroid adenoma. This finding was correlated on 4D-CT and confirmed on histopathology following surgical excision. Submandibular region is an unusual location for ectopic parathyroid adenoma.

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.

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.

An analysis of conventional and modern packaging approaches for cut flowers: a review article.

Fresh-cut flowers are considered to be one of the most delicate and challenging commercial crops. It is important to take into consideration how to minimize loss during storage and transportation when preserving cut flowers. Many impinging (bad effect) forces can interact to shorten the flowers' vase life.

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]).

Carbimazole-associated Pancreatitis: Report From Western India.

Pancreatitis is a very rare complication of methimazole and carbimazole therapy. We describe a case of possible carbimazole-associated pancreatitis. A 41-year-old Asian man (with no comorbidities) reported to the hospital with atrial fibrillation and a fast ventricular rate.

Machine learning for predicting diabetic metabolism in the Indian population using polar metabolomic and lipidomic features.

Aims: To identify metabolite and lipid biomarkers of diabetes in the Indian subpopulation in newly diagnosed diabetic and long-term diabetic individuals. To utilize the global polar metabolomic and lipidomic profiles to predict the susceptibility of an individual to diabetes using machine learning algorithms.

Materials And Methods: 87 individuals, including healthy, newly diabetic, and long-term diabetics on medication, were included in the study.

Acquired disorders of phosphaturia: Beyond tumor-induced osteomalacia.

Phosphate is an integral part of human cellular structure and function. Though most recognised disorders of phosphaturia are genetic in origin, phosphate loss due to acquired conditions is commonly encountered in clinical practice. Acquired hypophosphatemia is most commonly due to renal phosphate wasting and can produce significant morbidity.

Fluconazole-resistant Candida parapsilosis complex candidemia and analysis of mutations in the ERG11 gene from Pakistan.

Background: Recent reports of the emergence of fluconazole resistance in Candida parapsilosis species complex poses a challenge, more specifically in settings where echinocandin-based treatment regime is not feasible.

Objective: This study reported emergence of fluconazole resistance in C. parapsilosis species complex strains isolated from blood cultures.

Gonadotropin-secreting and thyrotropin-secreting pituitary adenomas: A single-center experience.

Objective: Data regarding rare FPAs from India, a resource limited setting, are limited. We describe a case series of rare FPAs from a single center in western India.

Materials And Methods: This was a retrospective case record review of patients diagnosed between January 2010 and July 2022.

Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of phosphate homeostasis. We describe a single-center experience of genetically proven HHRH families and perform systematic review phenotype-genotype correlation in reported biallelic probands and their monoallelic relatives. Detailed clinical, biochemical, radiological, and genetic data were retrieved from our center and a systematic review of Pub-Med and Embase databases for patients and relatives who were genetically proven.

Giant prolactinoma in Asian-Indians: A single-center experience from Western India.

Purpose: Giant prolactinomas (GP) are rare tumors accounting for 4.3% of prolactinomas, with paucity of literature from India. We aim to describe clinical, biochemical, radiological, and treatment outcomes in a large series of Asian-Indian patients with GP.