Results 11 to 20 of about 2,322 (168)
Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity. [PDF]
Clin Case RepArchibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Pellegrin MC +4 more
europepmc +2 more sources
Pseudohypoparathyroidism Presenting With Recurrent Twitching: Challenges Making a Diagnosis in a Low-Resource Environment. [PDF]
Case Rep EndocrinolPseudohypoparathyroidism (PHP) is a metabolic disorder that occurs due to target end‐organ resistance to parathyroid hormone (PTH). It is a rare cause of severe symptomatic hypocalcemia as it characteristically manifests with high phosphate and low calcium.
Wamalwa P, Amolo P.
europepmc +2 more sources
Pseudohypoparathyroidism versus signaling disorder: A case report
SAGE Open Medical Case Reports, 2023 Pseudohypoparathyroidism is a terminology used to describe a group of metabolic disorders characterized by parathyroid hormone resistance. Patients with pseudohypoparathyroidism have hypocalcemia, hyperphosphatemia, and elevated serum parathyroid hormone.
Ahmad Abdullah Imam
doaj +1 more source
Headache in a Child with Pseudohypoparathyroidism: An Alarming Symptom Not to Miss
Case Reports in Endocrinology, 2020 Background. While the endocrine manifestations of pseudohypoparathyroidism are well known, less is known about the associated brain and spine abnormalities.
Sarah Wing-yiu Poon +3 more
doaj +1 more source
An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature
Archives of Endocrinology and Metabolism, 2020 SUMMARY Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus ...
José Diogo Ramalho e Silva +2 more
doaj +1 more source
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism [PDF]
American Journal of Roentgenology, 1977 The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism by the absence of endocrine abnormalities, more generalized osseous abnormalities, and a characteristic facial appearance.
R C, Ablow, Y E, Hsia, I K, Brandt
openaire +2 more sources
A Rare Case of Association between Pseudohypoparathyroidism and Type 1 Diabetes Mellitus [PDF]
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2023 Background and Objective: Type 1 diabetes mellitus (T1DM) as an autoimmune disease is associated with hyperglycemia and pseudohypoparathyroidism with hypoglycemia.
SH Hashemi, M Motadel, M Alijanpour
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Brachymetatarsia as an Early Clue to Turner Syndrome. [PDF]
Clin Case RepABSTRACT Congenital anomalies of the extremities, particularly bilateral toe or finger malformations, may provide an early and valuable clue to an underlying genetic disorder and should prompt further diagnostic evaluation. Brachymetatarsia is a rare associated finding that may raise suspicion for Turner syndrome, particularly when diagnosis is delayed
Mahfoud H, Elhanchi Z.
europepmc +2 more sources
Frontiers in Endocrinology, 2023 ObjectiveiPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating GNAS pathogenic variants. A high percentage of de novo cases has been suggested.
Yerai Vado +4 more
doaj +1 more source
Pseudohypoparathyroidism during pregnancy and the postpartum period: A case series of five patients
Frontiers in Endocrinology, 2022 ObjectivesPseudohypoparathyroidism (PHP) is a rare disease, especially when combined with pregnancy. We aimed to explore the changes in serum calcium/parathyroid hormone (PTH) level and medical treatment in a case series of PHP during pregnancy and the ...
Jia-Jia Wang +9 more
doaj +1 more source