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Case Rep Neurol 2022 Jan-Apr;14(1):157-161. Epub 2022 Mar 18.

Department of Endocrinology, Hospital Putrajaya, Putrajaya, Malaysia.

Pituitary adenoma can manifest as pituitary hypofunction, which can cause symptoms of panhypopituitarism. Commonly, symptoms of hormonal deficiencies such as lethargy, weight change, cold intolerance, and sexual dysfunction are reported. Optic chiasmal compression leads to visual field changes and the discovery of the pituitary lesion. Read More

Front Endocrinol (Lausanne) 2022 22;13:868047. Epub 2022 Apr 22.

National Health Commission (NHC) Key Laboratory of Endocrinology, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Background: Gonadotropins are effective in inducing spermatogenesis in patients with congenital combined pituitary hormone deficiency (CCPHD). Data on recombinant human growth hormone(rhGH) adjuvant treatment to improve gonadotropin-induced spermatogenesis are limited.

Design And Setting: This retrospective study included 60 male patients with CCPHD on a relatively large case series in a single center from mainland China. Read More

Genes (Basel) 2022 04 8;13(4). Epub 2022 Apr 8.

Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.

Pathogenic variants within the gene encoding the pituitary-specific transcription factor, POU class 1 homeobox 1 (), are associated with combined pituitary hormone deficiency (CPHD), including growth hormone, prolactin, and thyrotropin stimulating hormone deficiencies. The aim of the study was to identify genetic aetiology in 10 subjects with CPHD from four consanguineous Sudanese families. Medical history, as well as hormonal and radiological information, was obtained from participants' medical records. Read More

J Pediatr Endocrinol Metab 2022 May 30;35(5):631-638. Epub 2022 Mar 30.

Department of Pediatrics, Pediatric Endocrinology Unit, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto (CMIN-CHUPorto), Porto, Portugal.

Background: Adrenal insufficiency (AI) is a life-threatening condition caused by an impaired secretion of the adrenal glucocorticoid and mineralocorticoid hormones. It comprises a heterogeneous group of primary, secondary and acquired disorders. Presentation differs according to the child's age, but it usually presents with nonspecific and insidious symptoms and signs. Read More

Cir Cir 2022 ;90(2):262-266

Departamento de Ciencias de la Salud, Universidad de Sonora. Ciudad Obregón, Sonora, México.

Background: Sheehan's syndrome is a hypopituitarism secondary to necrosis of the pituitary gland caused by massive postpartum bleeding. The presentation is frequently amenorrhea and agalactia; hypoglycemia as a solitary presentation is uncommon.

Case Report: 68-year-old female with a history of postpartum hemorrhage 35 years ago. Read More

Pituitary 2022 Jun 29;25(3):404-419. Epub 2022 Mar 29.

Department of Neurosurgery, Trauma Center, Gamma Knife Center, Cannizzaro Hospital, Via Messina 829, 95126, Catania, Italy.

Purpose: Gamma Knife radiosurgery (GKRS) is feasible for pituitary adenomas, but post-surgery GKRS may cause severe hormone deficits. We reviewed the literature on primary GKRS for pituitary adenoma focusing on radiation-induced hormone deficiencies.

Methods: PubMed, Web-of-Science, Scopus, and Cochrane were searched upon the PRISMA guidelines to include studies describing primary GKRS for pituitary adenomas. Read More

Cureus 2022 Feb 20;14(2):e22408. Epub 2022 Feb 20.

Internal Medicine, University of Illinois College of Medicine at Peoria, Peoria, USA.

Pituitary apoplexy (PA) is an expansion of a pituitary adenoma due to infarction or hemorrhage of the gland. The term apoplexy usually describes larger bleeds leading to a sudden onset of symptoms. Although it is a rare condition, it can be a life-threatening emergency. Read More

J Korean Med Sci 2022 Mar 21;37(11):e90. Epub 2022 Mar 21.

Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.

Background: The study aimed to compare the growth responses to 3 years of growth hormone (GH) treatment in children and adolescents with GH deficiency (GHD) according to idiopathic, organic, isolated (IGHD), and multiple pituitary hormone deficiency (MPHD).

Methods: Total 163 patients aged 2-18 years (100 males and 63 females; 131 idiopathic and 32 organic GHD; 129 IGHD and 34 MPHD) were included from data obtained from the LG Growth Study. Parameters of growth responses and biochemical results were compared during the 3-year GH treatment. Read More

Cureus 2022 Mar 3;14(3):e22812. Epub 2022 Mar 3.

Medicine, New York Institute of Technology College of Osteopathic Medicine (NYITCOM), Old Westbury, USA.

Hormonal derangements should be suspected whenever a patient experiences amenorrhea with no abnormal physical exam findings. Clinical suspicion is increased if she also reports psychological trauma that could affect her nervous system and, by association, her hormones since the pituitary gland is present in the brain. Additional exams that aid in the diagnosis of amenorrhea include a variety of blood panels and imaging scans. Read More

Ethiop J Health Sci 2021 Sep;31(5):1069-1072

Departments of Endocrinology and Metabolism, All India Institute of Medical Sciences, Bhubaneswar-751019 (India).

Background: Autoimmune hypophysitis is the consequence of an immune-mediated inflammation of the pituitary gland, which is rare, and most frequently occurs in females during postpartum periods. It usually responds well to corticosteroid treatment with reported resolution of the pituitary mass lesion.

Case Report: A 51 years male presented with a one-month history of lethargy, headache, nausea, proximal muscle weakness with intermittent flushing. Read More

Pediatrics 2022 03;149(3)

Divisions of Pediatric Endocrinology.

We report a case of a 17-month-old boy with developmental delay who presented with acute-onset right-sided hemiparesis and hypoglycemia. Severe hypotension developed during his sedation for MRI and magnetic resonance angiography. Imaging revealed a hypoplastic pituitary gland within a shallow sella turcica and findings suggestive of moyamoya syndrome. Read More

J Clin Endocrinol Metab 2022 03;107(4):1170-1190

Division of Endocrinology, Diabetes and Metabolism, Mayo Clinic, Rochester, Minnesota 55905, USA.

Context: Lymphocytic hypophysitis (LyHy) is characterized by inflammation of the pituitary and or neuroinfundibulum and is uncommon. Treatment options include observation, high-dose glucocorticoids (HD-GCs) or surgery. Optimal first-line management strategy, however, remains unknown. Read More

J Pediatr Endocrinol Metab 2022 May 4;35(5):687-690. Epub 2022 Feb 4.

Department of Paediatrics, Nagaoka Red Cross Hospital, Niigata, Japan.

Objectives: A highly invasive pathological diagnosis is necessary to differentiate central diabetes insipidus (CDI) with a thickened pituitary stalk. Lymphocytic infundibulo-hypophysitis (LIH) due to autoimmune involvement of the pituitary stalk is a differentiating disease, and anti-rabphilin-3A antibody (Rab3A-Ab) positivity was recently reported.

Case Presentation: A 7-year-old boy was diagnosed with CDI after having polyuria for two months. Read More

Pediatr Endocrinol Diabetes Metab 2021 ;27(4):272-282

Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Poland.

Introduction: The pituitary stalk interruption syndrome (PSIS) is one of the complex -forms of congenital pituitary insufficiency. Symptoms resulting from insufficiency of the pituitary gland, in spite of the inborn character of the disease, may appear at various stages of life. The aim of this paper was to present clinical presentation in 31 patients with PSIS confirmed radiologically. Read More

Pituitary 2022 Apr 28;25(2):321-327. Epub 2022 Jan 28.

Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N-15, W-7, Kita-ku, Sapporo, 060-8638, Japan.

Purpose: To explore the clinical significance of anti-rabphillin-3A antibody for the differential diagnosis of lymphocytic panhypophysitis.

Methods And Results: A 58-year-old Japanese man developed uveitis of unknown cause in 2017. In 2019, he became aware of polyuria. Read More

Cureus 2021 Dec 16;13(12):e20474. Epub 2021 Dec 16.

Endocrinology and Diabetes, York Teaching Hospital, National Health Service (NHS) Foundation Trust, York, GBR.

The association between type 1 diabetes mellitus (DM) and pituitary prolactinoma is rarely reported in the literature. Herein we present a 23-year-old male patient with co-existing type 1 DM, pituitary macro-prolactinoma and panhypopituitarism secondary to mass effect. The patient presented with generalised symptoms including fatigability, cold hands, decreased insulin requirement secondary to frequent hypoglycaemic episodes two weeks following the diagnosis of type 1 DM. Read More

Eur J Case Rep Intern Med 2021 31;8(12):003099. Epub 2021 Dec 31.

Internal Medicine Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal.

Pituitary adenomas are the most common cause of hypopituitarism associated with pituitary enlargement, but other aetiologies have been emerging, namely immune checkpoint inhibitor-induced hypophysitis (ipilimumab, nivolumab and pembrolizumab). Secukinumab is a recently approved human monoclonal antibody used for the treatment of psoriasis, with no know reported cases of hypophysitis. We describe a challenging case of panhypopituitarism in a patient with a pituitary incidentaloma and a temporal relationship between secukinumab initiation and the manifestation of clinical features suggestive of hypopituitarism. Read More

Reprod Biomed Online 2022 Mar 31;44(3):532-537. Epub 2021 Oct 31.

Division of Reproductive Endocrinology and Infertility, McGill University Health Care Center, Montreal Quebec, Canada.

Research Question: What are the consequences of panhypopituitarism on pregnancy outcomes?

Design: Retrospective population-based study using data from the Healthcare Cost and Utilization Project - Nationwide Inpatient Sample (HCUP-NIS). A dataset was created of all deliveries between 2004 and 2014 inclusive. Within this group, all deliveries to women who had a diagnosis of panhypopituitarism during pregnancy were identified as part of the study group (n = 120), and the remaining deliveries comprised the reference group (n = 8,732,641). Read More

Arch Endocrinol Metab 2022 Mar 13;66(1):104-111. Epub 2022 Jan 13.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil,

We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 () gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of the 17. Read More

BMC Cancer 2021 Dec 18;21(1):1346. Epub 2021 Dec 18.

Department of radiation therapy, Institut de Cancérologie de Lorraine, 6 avenue de Bourgogne, 54519, Vandoeuvre Les Nancy, France.

Background: Cranial irradiation represents one of the first line treatment proposed in skull base meningiomas. While cranial irradiation is associated with a high risk of secondary hypopituitarism, few studies focused on the specific location of skull base meningiomas.

Methods: Fifty-two adults receiving photon-beam therapy for skull base meningiomas between 2003 and 2014 in our Institution were included. Read More

Am J Med Genet A 2022 04 17;188(4):1065-1074. Epub 2021 Dec 17.

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Variants in transcription factor GLI2 have been associated with hypopituitarism and structural brain abnormalities, occasionally including holoprosencephaly (HPE). Substantial phenotypic variability and nonpenetrance have been described, posing difficulties in the counseling of affected families. We present three individuals with novel likely pathogenic GLI2 variants, two with truncating and one with a de novo missense variant p. Read More

Mol Genet Metab Rep 2021 Dec 12;29:100819. Epub 2021 Nov 12.

School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Failure to thrive is one of the most common complaints in the endocrinology and genetics clinic. An 8-month-old girl with presentation of motor developmental delay, failure to thrive, and midline facial defects, with history of hypoglycemia at birth and central congenital hypothyroidism (CCH), was brought to our genetic clinic. Hormone test demonstrated combined pituitary hormone deficiency with growth hormone deficiency (GHD), central hypothyroidism, and hypoprolactinemia. Read More

Head Face Med 2021 Nov 23;17(1):49. Epub 2021 Nov 23.

Dental School and Postgraduate School of Orthodontics, Vita-Salute San Raffaele University and IRCCS San Raffaele Hospital, via Olgettina 58, Milan, Italy.

Background: The median solitary maxillary central incisor syndrome (SMMCI) is a rare malformative syndrome consisting of multiple defects, mainly found on the body midline. It can be correlated to the etiopathological and phenotypic pattern of panhypopituitarism. This case-report describes the rare case of a patient suffering from SMMCI and panhypopituitarism, showing an unusual craniofacial morphology. Read More

Probl Endokrinol (Mosk) 2021 10 3;67(5):58-66. Epub 2021 Oct 3.

Burdenko Neurosurgery Institute.

We describe a 15-year girl, who developed panhypopituitarism and diencephalic obesity after surgical excision of craniopharyngioma, followed by nonalcoholic fatty liver disease and cirrhosis 5 years after surgery. Cirrhosis in this case manifested by hypoxia due to hepatopulmonary syndrome, and despite cure of craniopharyngioma by surgery and radiosurgery treatment and adequate hormonal substitution therapy patient died 9 years after surgery. Growth hormone substitutional therapy in patients with hypopituitarism, and steatohepatitis may decrease liver triglyceride accumulation and prevent end-stage liver disease. Read More

Eur J Endocrinol 2021 Nov 26;185(6):C19-C25. Epub 2021 Nov 26.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes. Read More

Pol Arch Intern Med 2021 Nov 28;131(11). Epub 2021 Sep 28.

Department of Lung Diseases, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.

Genes (Basel) 2021 07 25;12(8). Epub 2021 Jul 25.

Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av Dr Eneas de Carvalho Aguiar, 155, 2 Andar, Bloco 6, São Paulo 05403-000, Brazil.

We report four allelic variants (three novel) in three genes previously established as causal for hypopituitarism or related disorders. A novel homozygous variant in the growth hormone gene, c.171delT (p. Read More

Cancers (Basel) 2021 Aug 17;13(16). Epub 2021 Aug 17.

Section on Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.

Purpose: We examined abnormal pituitary imaging (API) and associated endocrine dysfunction in subjects with ECD.

Methods: A cross-sectional descriptive examination of a natural history cohort study diagnosed with ECD was conducted at a clinical research center. Subjects underwent baseline endocrine tests of anterior and posterior pituitary function and dedicated pituitary gland MRI scans. Read More

BMJ Case Rep 2021 Aug 25;14(8). Epub 2021 Aug 25.

Department of Internal Medicine, Meander Medical Centre, Amersfoort, The Netherlands.

A 53-year-old woman was referred for medical evaluation of therapy-resistant dyslipidaemia accompanied by elevated creatine kinase levels. Because cessation or alteration of her medication did not improve laboratory abnormalities, hypothyroidism was considered, despite the fact that thyroid stimulating hormone levels were within the reference interval. On further evaluation, she was found to have panhypopituitarism and empty sella turcica as shown by MRI. Read More