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An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature
Silva, José Diogo Ramalho e; da Rocha, Gustavo Filipe Melo Alves; Oliveira, Maria João Martins.
  • Silva, José Diogo Ramalho e; Centro Hospitalar de Vila Nova de Gaia/Espinho (CHVNG/E). Departamento de Endocrinologia e Nutrição. Vila Nova de Gaia. PT
  • da Rocha, Gustavo Filipe Melo Alves; Centro Hospitalar de Vila Nova de Gaia/Espinho (CHVNG/E). Departamento de Endocrinologia e Nutrição. Vila Nova de Gaia. PT
  • Oliveira, Maria João Martins; Centro Hospitalar de Vila Nova de Gaia/Espinho (CHVNG/E). Departamento de Endocrinologia e Nutrição. Vila Nova de Gaia. PT
Arch. endocrinol. metab. (Online) ; 65(1): 112-116, Jan.-Feb. 2021. tab
Article in English | LILACS | ID: biblio-1152878
ABSTRACT
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 are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. We describe an unusual case of sporadic pseudohypoparathyroidism type 1B. A 34-year-old Caucasian woman was admitted to the emergency department, with persistent asthenia, limb paresthesias, and tactile hyposensitivity. Her physical examination, previous personal and family histories were unsuspicious, except for mild, intermittent and self-limited complaints of paresthesia during her two pregnancies, but no detailed workup was done. No typical features of Albright hereditary osteodystrophy were observed. The initial laboratory investigation showed elevated parathyroid hormone level (311.2 pg/mL), hypocalcemia (albumin-corrected serum calcium 4.3 mg/dL), hypocalciuria, hyperphosphatemia, hypophosphaturia, and vitamin D deficiency. Combined calcium, vitamin D, and magnesium supplementation was commenced, with symptomatic and analytical improvement. Albeit resolution of vitamin D deficiency, the patient relapsed with mild and intermittent lower limb paresthesias. Pseudohypoparathyroidism was confirmed by molecular identification of the 3-kb STX16 deletion. The treatment was readjusted, and one year later, symptomatic remission was attained. Clinical and biochemical features, and their respective course, along with lack of distinctive features of Albright hereditary osteodystrophy pointed to pseudohypoparathyroidism type 1B. A careful follow-up is needed to avoid complications and recurrence. Once correction of hypocalcemia and hyperphosphatemia is achieved, with no reported complications and recurrence, a good prognosis is anticipated, comparable to the general population.
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Full text: Available Index: LILACS (Americas) Main subject: Pseudohypoparathyroidism / Vitamin D Deficiency / Hypocalcemia Type of study: Prognostic study Limits: Female / Humans Language: English Journal: Arch. endocrinol. metab. (Online) Journal subject: Endocrinology / Metabolism Year: 2021 Type: Article Affiliation country: Portugal Institution/Affiliation country: Espinho (CHVNG

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Full text: Available Index: LILACS (Americas) Main subject: Pseudohypoparathyroidism / Vitamin D Deficiency / Hypocalcemia Type of study: Prognostic study Limits: Female / Humans Language: English Journal: Arch. endocrinol. metab. (Online) Journal subject: Endocrinology / Metabolism Year: 2021 Type: Article Affiliation country: Portugal Institution/Affiliation country: Espinho (CHVNG