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Ear, Nose, & Throat Journal Jun 2024Pituitary apoplexy (PA) is a rare phenomenon, characterized by a hemorrhagic or ischemic event of the pituitary gland, most often in association with a pituitary... (Review)
Review
Pituitary apoplexy (PA) is a rare phenomenon, characterized by a hemorrhagic or ischemic event of the pituitary gland, most often in association with a pituitary lesion. Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is the strain of virus responsible for the internationally recognized global pandemic COVID-19. Multiple clinical manifestations associated with this virus have been described, ranging from asymptomatic, mild flu symptoms to acute respiratory distress syndrome, end-organ failure leading to death. Cases of patients with concomitant COVID-19 infections and PA are being further recognized in the literature, but the causal association between the 2 entities remains speculative. The objectives of this case series are 3-fold: to describe additional cases of patients with concomitant COVID-19 infection and PA (1), to review the current evidence regarding this potential complication associated with a COVID-19 infection (2), and to discuss physiopathological hypotheses, treatments, and prognoses of this newly recognized association (3). We conducted an electronic chart review of patients treated for PA with concomitant COVID-19 infection from March 2020 to December 2021. A literature review was performed using MEDLINE, Web of Science, and Embase databases to identify other cases of COVID-19-associated PA. From March 2020 to December 2021, 3 patients presented to our center with PA following a symptomatic COVID-19 infection. Two of these patients developed PA symptoms days following the viral infection, whereas the third patient developed PA after a 2-month period. The 2 first patients were managed surgically because of persistent visual symptoms. Results from our literature review yielded 12 other cases of COVID-19-associated PAs. The association between COVID-19 infection and PA has been increasingly reported in the literature. With the addition of the 3 cases described in our article, a total of 15 cases have been published. Many contributing mechanisms may lead to PA following COVID-19 infection. Coagulopathy is probable major contributing cause responsible for hemorrhage or infarction of the pituitary gland. Our case series provides further arguments that PA may be a direct manifestation of a COVID-19 infection.
Topics: Humans; COVID-19; Pituitary Apoplexy; Male; Middle Aged; Female; Risk Factors; SARS-CoV-2; Aged; Adult
PubMed: 37291861
DOI: 10.1177/01455613231179714 -
SAGE Open Medical Case Reports 2023Hypogonadotropic hypogonadism is a common finding in patients who are diagnosed with a prolactinoma. It can be accompanied by the presence of other pituitary hormone...
Hypogonadotropic hypogonadism is a common finding in patients who are diagnosed with a prolactinoma. It can be accompanied by the presence of other pituitary hormone deficits, including secondary adrenal insufficiency and central hypothyroidism. While the proportion of improvement in endocrine deficits over the short term is well characterized, there is not enough literature about the recovery of pituitary function over the longer term. We present the case of a 23-year-old man with a giant prolactinoma who initially presented with pituitary hemorrhage and panhypopituitarism. He underwent decompression of the pituitary tumor followed by treatment with cabergoline. Over a 9-year follow-up period, we noted that the hypogonadotropic hypogonadism resolved after 4 years and the secondary adrenal insufficiency resolved after 8 years. This case suggests that partial or complete recovery of the pituitary function is possible over the long-term even in patients with a giant prolactinoma.
PubMed: 37533485
DOI: 10.1177/2050313X231190672 -
Clinical Case Reports Jul 2023We reported a 23-year-old male patient with panhypopituitarism who underwent two resections for craniopharyngioma and received postoperative hormone replacement therapy....
We reported a 23-year-old male patient with panhypopituitarism who underwent two resections for craniopharyngioma and received postoperative hormone replacement therapy. The Tc-MDP bone scan revealed focal high uptake of radioactive nuclide in multiple large joints. The SPECT/CT demonstrated the focal high uptake in their metaphysis. Thus, delayed epiphyseal closure was considered.
PubMed: 37415579
DOI: 10.1002/ccr3.7644 -
Cureus Sep 2023Congenital nasal pyriform aperture stenosis (CNPAS) is a rare neonatal entity characterized by a reduction in the pyriform orifice of the nasal cavity. Because of its...
Congenital nasal pyriform aperture stenosis (CNPAS) is a rare neonatal entity characterized by a reduction in the pyriform orifice of the nasal cavity. Because of its nonspecific clinical presentation as respiratory distress symptoms, it can mimic choanal atresia. Although isolated forms have been described, CNPAS is often associated with other congenital midline malformations. A single median incisor is usually found, with or without other cervical and maxillofacial malformations. The existence of hypothalamic-pituitary axis malformations with endocrine disorders is also possible and, in some cases, a moderate to severe intellectual deficit in association with other brain malformations. Radiological investigation is a central point in the multidisciplinary management of this type of polymalformative syndrome.
PubMed: 37711266
DOI: 10.7759/cureus.45153 -
Indian Journal of Endocrinology and... 2024Infants born preterm, with low birth weight (LBW), or with perinatal stress are at high risk for neonatal hypoglycemia. Low cortisol levels have also been demonstrated...
INTRODUCTION
Infants born preterm, with low birth weight (LBW), or with perinatal stress are at high risk for neonatal hypoglycemia. Low cortisol levels have also been demonstrated in this group of neonates, which is often transient. We report a series of neonates with transient hypocortisolism who had neonatal hypoglycemia.
METHODS
A descriptive study on clinic-biochemical parameters of a group of five neonates who had persistent neonatal hypoglycemia and had demonstrated low cortisol on critical sample testing.
RESULTS
All five neonates had birth weights below normal and four were born preterm. A history of perinatal asphyxia was seen in four cases and neonatal sepsis in two. During critical sample testing (when blood glucose [BG] was <50 mg/dl), hyperinsulinism (Insulin >2 mIU/ml) was seen in three infants whereas insulin was undetectable in two. The median cortisol during critical sample testing was 1.9 mcg/dl (0.88 - 3.7). Critical GH was normal in all, and ACTH ranged from 7.2 pg/ml to 41.3 pg/ml. None of the infants had overt clinical features of panhypopituitarism or primary adrenal insufficiency. USG brain revealed germinal matrix hemorrhage in two infants, which resolved on follow-up. USG adrenals and electrolytes were normal in all. Four of the five babies were started on oral hydrocortisone, to which they responded well with the resolution of hypoglycemia. No adverse events were noted. On follow-up, the median time to recover of serum cortisol to normal was 4 months.
CONCLUSION
The contribution of transient hypocortisolism to hypoglycemia in infants at risk, including preterm, LBW, or those with perinatal stress, in the presence or absence of hyperinsulinism, is not well known. While the non-specific use of glucocorticoids is not advocated, the role of therapeutic glucocorticoids among at-risk neonates with documented hypocortisolism during hypoglycemia should be an area for research. Close follow-up of these neonates for spontaneous recovery of cortisol levels is warranted.
PubMed: 38911113
DOI: 10.4103/ijem.ijem_158_23 -
Case Reports in Endocrinology 2023Parathyroid carcinoma accounts for <1% of cases of primary hyperparathyroidism (PHPT). This rare condition may present with severe hypercalcemia and bone complications...
BACKGROUND
Parathyroid carcinoma accounts for <1% of cases of primary hyperparathyroidism (PHPT). This rare condition may present with severe hypercalcemia and bone complications such as osteoclastomas and pathologic fractures. Here, we present a rare condition of panhypopituitarism resulting from an osteoclastoma in the sphenoid bone that invaded the pituitary fossa due to parathyroid carcinoma. . A 47-year-old woman previously diagnosed with PHPT underwent a parathyroidectomy 6 years earlier, with histological examination indicating a parathyroid adenoma. After surgery, she continued to exhibit high serum parathyroid hormone (PTH) and calcium levels, with the development of bone pain and spontaneous fractures. Imaging exams showed a large osteoclastoma of the sphenoid bone, invading the pituitary fossa, causing hypopituitarism. A new parathyroidectomy was performed, with histological confirmation of parathyroid carcinoma and regression of the osteoclastoma.
CONCLUSION
This case illustrates an unusual presentation of parathyroid carcinoma, in which an osteoclastoma of the sphenoid bone caused hypopituitarism.
PubMed: 38156081
DOI: 10.1155/2023/8274108 -
Archives of Endocrinology and Metabolism Nov 2023Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with...
OBJECTIVE
Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH.
MATERIALS AND METHODS
This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed.
RESULTS
We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR.
CONCLUSION
Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH.
Topics: Female; Humans; Male; Alleles; Hypopituitarism; Mutation; Nuclear Proteins; Transcription Factor Pit-1; Transcription Factors; Zinc Finger Protein Gli2
PubMed: 37948564
DOI: 10.20945/2359-4292-2022-0254 -
American Journal of Medical Genetics.... Jul 2024Orthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients... (Review)
Review
Orthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients with combined pituitary hormone deficiency, oculo-auriculo-vertebral spectrum, and hemifacial microsomia. There has been one previously published case of a patient carrying a 14q22.3 duplication that included OTX2 with hemifacial microsomia who also developed medulloblastoma. Here, we present a case of a 6-year-old girl with a history of delayed development who was diagnosed with medulloblastoma. Genetic evaluations revealed that she inherited a germline duplication of 14q22.3, which included OTX2. This genetic alteration was passed down from her mother, who also had a history of delayed development. Results from other genetic testing, including exome sequencing, fragile X syndrome, and mtDNA testing, were negative/normal. This is the second report of a 14q22.3 duplication that included OTX2 in a patient with medulloblastoma. Further studies are necessary to establish a clear association.
Topics: Humans; Otx Transcription Factors; Female; Medulloblastoma; Child; Chromosomes, Human, Pair 14; Cerebellar Neoplasms; Chromosome Duplication
PubMed: 38511879
DOI: 10.1002/ajmg.a.63604 -
Endocrine Journal May 2024Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be...
Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be detected by newborn screening (NBS) using dry filter paper blood TSH levels, and early diagnosis remains challenging. In this study, the clinical and genetic backgrounds of patients with isolated central CH were determined through a questionnaire-based survey among members of the Japanese Society for Pediatric Endocrinology. The known causes of isolated central CH were studied in 14 patients, including six with previously reported patient data. The results revealed IGSF1 and TBL1X pathogenic variants in nine and one patient, respectively. All six patients with low free thyroxine (FT4) levels detected in NBS carried IGSF1 pathogenic variants. Five patients with isolated central CH diagnosed after 3 months of age were variant-negative, except for one female patient with a heterozygous IGSF1 variant. Two of the four variant-negative patients and a variant-positive patient were diagnosed with pituitary hypoplasia. One and two patients with IGSF1 variant had obesity and intellectual disability, respectively. Left amblyopia was identified in the patient with a TBL1X variant. The study revalidated that IGSF1 variants comprise the most frequent pathogenic variant in patients with isolated central CH in Japan. The neonatal period is the optimal time for the diagnosis of central CH, particularly IGSF1 abnormalities, and the introduction of T4 screening should be considered in the future, taking cost-effectiveness into consideration.
Topics: Humans; Congenital Hypothyroidism; Female; Japan; Male; Infant, Newborn; Neonatal Screening; Infant; Membrane Proteins; Child, Preschool; Child; Immunoglobulins; Mutation; Transducin
PubMed: 38462462
DOI: 10.1507/endocrj.EJ23-0391 -
Cureus Dec 2023Heterozygous mutations of ()can result in ocular malformations, pituitary abnormalities, or hypopituitarism spanning from isolated growth hormone (GH) deficiency to...
Heterozygous mutations of ()can result in ocular malformations, pituitary abnormalities, or hypopituitarism spanning from isolated growth hormone (GH) deficiency to combined pituitary hormone deficiency. We present a patient exhibiting growth and pubertal disturbances, developmental delay, and pigmentary retinopathy. Further examination revealed deficiencies in GH following clonidine stimulation, hypogonadism, and, subsequently, central hypothyroidism. Brain magnetic resonance imaging uncovered hypoplasia of the pituitary and an ectopic pituitary tissue. Sequence analysis of identified a novel heterozygous mutation c.555_556dup, p.(Ser186Ilefs*21), indicative of a frameshift mutation. Replacement therapy with recombinant human GH, testosterone enanthate, and levothyroxine was started. Notably, GH therapy resulted in significant catch-up growth. This case report contributes to our comprehension of the molecular and clinical findings, particularly highlighting endocrine manifestations and a rare ophthalmologic manifestation associated with mutations in the gene.
PubMed: 38249203
DOI: 10.7759/cureus.50819