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    896 results match your criteria Hypopituitarism Panhypopituitarism

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    Infundibulo-hypophysitis-like radiological image in a patient with pituitary infiltration of a diffuse large B-cell non-Hodgkin lymphoma.
    Endocrinol Diabetes Metab Case Rep 2016 17;2016. Epub 2016 Dec 17.
    Department of Endocrinology and Metabolism , Neuroendocrinology Clinic, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan , Mexico.
    Non-Hodgkin lymphoma (NHL) is a hematological tumor caused by abnormal lymphoid proliferation. NHL can arise in any part of the body, including central nervous system (CNS). However, pituitary involvement is a quite rare presentation. Read More

    Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients.
    Case Rep Pediatr 2016 28;2016:4328492. Epub 2016 Nov 28.
    Departments of Medical Genetics and Pediatrics, University of Calgary, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB, Canada.
    Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Read More

    Classical and non-classical causes of GH deficiency in the paediatric age.
    Best Pract Res Clin Endocrinol Metab 2016 Dec 24;30(6):705-736. Epub 2016 Nov 24.
    Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Endocrine Unit, Istituto Giannina Gaslini, University of Genova, Genova, Italy. Electronic address:
    Growth hormone deficiency (GHD) may result from a failure of hypothalamic GHRH production or release, from congenital disorders of pituitary development, or from central nervous system insults including tumors, surgery, trauma, radiation or infiltration from inflammatory diseases. Idiopathic, isolated GHD is the most common sporadic form of hypopituitarism. GHD may also occur in combination with other pituitary hormone deficiencies, and is often referred to as hypopituitarism, combined pituitary hormone deficiency (CPHD), multiple pituitary hormone deficiency (MPHD) or panhypopituitarism. Read More

    Genetic causes of isolated and combined pituitary hormone deficiency.
    Best Pract Res Clin Endocrinol Metab 2016 Dec 15;30(6):679-691. Epub 2016 Oct 15.
    Department of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara, Italy. Electronic address:
    Research over the last 20 years has led to the elucidation of the genetic aetiologies of Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency (CPHD). The pituitary plays a central role in growth regulation, coordinating the multitude of central and peripheral signals to maintain the body's internal balance. Naturally occurring mutation in humans and in mice have demonstrated a role for several factors in the aetiology of IGHD/CPHD. Read More

    Administration of anti-receptor activator of nuclear factor-kappa B ligand (RANKL) antibody for the treatment of osteoporosis was associated with amelioration of hepatitis in a female patient with growth hormone deficiency: a case report.
    BMC Endocr Disord 2016 Nov 24;16(1):66. Epub 2016 Nov 24.
    Internal Medicine 1, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane, 693-8501, Japan.
    Background: Growth hormone deficiency (GHD) is associated with non-alcoholic fatty liver disease (NAFLD). A recent animal study showed that hepatocyte-specific receptor activator of nuclear factor-kappa B (RANK) knockout mice had significantly lower liver fat content compared with control mice concomitant with a decrease in production of inflammatory cytokines such as tumor necrosis factor-α (TNF-α) from hepatocytes and kupffer cells. The role of anti-RANK ligand (RANKL) antibody for osteoporosis on hepatitis in patients with aGHD is still unknown. Read More

    Cholesterol granulomas presenting as sellar masses: a similar, but clinically distinct entity from craniopharyngioma and Rathke's cleft cyst.
    Pituitary 2016 Nov 11. Epub 2016 Nov 11.
    Department of Neurosurgery, Thomas Jefferson University, 909 Walnut Street, 3rd Floor, Philadelphia, PA, 19107, USA.
    Purpose: Cholesterol granulomas in the sella are rare and can mimic the appearance of craniopharyngioma or Rathke's cleft cysts. Information regarding the clinical presentation, imaging characteristics, and clinical course of sellar cholesterol granulomas can help clinicians to differentiate these lesions from other sellar cystic lesions.

    Methods: We present three cases of sellar cholesterol granulomas. Read More

    Contribution of LHX4 mutations to pituitary deficits in a cohort of 417 unrelated patients.
    J Clin Endocrinol Metab 2016 Nov 7:jc20163158. Epub 2016 Nov 7.
    2 INSERM, UMR_S933, F-75012, Paris, France.
    Context: LHX4 encodes a LIM-homeodomain transcription factor implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism.

    Objective: To evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, and to precise the associated phenotypes. Read More

    Critical review of IgG4-related hypophysitis.
    Pituitary 2016 Nov 3. Epub 2016 Nov 3.
    Department of Diabetology, Metabolism, and Endocrinology, Tokyo Medical University Hospital, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo, 160-0023, Japan.
    Purpose: IgG4-related hypophysitis is a rare disease, with only 34 cases published in English (2015). Available short reviews may not present complete details of IgG4-related hypophysitis. We aimed to survey case reports of IgG4-related hypophysitis, including abstracts of scientific meetings, in English and Japanese. Read More

    Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt.
    Arch Immunol Ther Exp (Warsz) 2016 Dec 12;64(6):485-495. Epub 2016 Mar 12.
    Chair and Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland.
    The role of autoimmunization in the pathogenesis of pituitary disorders is poorly understood. The presence of pituitary autoantibodies (APA) has been detected in various pituitary disorders. Their role, however, remains elusive. Read More

    Hypophyseal metastases: A report of three cases and literature review.
    Neurol Neurochir Pol 2016 Nov - Dec;50(6):511-516. Epub 2016 Sep 4.
    Department of Neurosurgery, University Medical Centre Maribor, Maribor, Slovenia. Electronic address:
    Metastatic tumours to the pituitary gland are rare. The most frequent are metastases from breast and lung. We describe three patients with metastatic tumours: (I) a 54-year-old patient with metastatic renal clear-cell carcinoma and consequent disturbances in visual acuity, cranial nerve paresis and panhypopituitarism, (II) a 60-year-old patient with a diffuse large B-cell lymphoma with panhypopituitarism and diabetes insipidus and (III) a 57-year-old patient with metastasis of breast cancer and panhypopituitarism, visual impairment and cranial nerve paresis. Read More

    Rathke Cleft Cyst with Entirely Ossified Cyst Wall and Partially Solid Cyst Content: A Case Report and Literature Review.
    World Neurosurg 2017 Feb 18;98:882.e15-882.e20. Epub 2016 Oct 18.
    Department of Neurosurgery, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
    Background: In Rathke cleft cysts (RCCs), inflammation by the cyst contents infrequently spreads to the surrounding structures. Calcification, which is regarded as a result of chronic inflammation of the cyst wall, can rarely be found in RCCs. Moreover, ossification is extremely rare. Read More

    Xanthomatous hypophysitis associated with autoimmune disease in an elderly patient: A rare case report.
    Surg Neurol Int 2016 7;7(Suppl 16):S449-53. Epub 2016 Jul 7.
    Department of Neurosurgery, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan.
    Background: Xanthomatous hypophysitis (XH) is an extremely rare form of primary hypophysitis characterized by infiltration of the pituitary gland by mixed types of inflammatory cells, including foamy cells, plasma cells, and small mature lymphocytes. XH manifests as varying degrees of hypopituitarism. Although several previous reports have denied a possible contribution of autoimmune mechanism, the exact pathogenesis of XH remains unclear. Read More

    SHORT STATURE: WHA T IS THE CAUSE IN OUR POPULATION.
    J Ayub Med Coll Abbottabad 2016 Jan-Mar;28(1):135-40
    Background: Globally children and adolescents with growth failure are referred to specialized units for evaluation and management. We designed this study to determine the cause of short stature in children and adolescents referred to our endocrine unit for evaluation and further management.

    Methods: This descriptive cross sectional study was performed in the Department of Endocrine, Diabetes and Metabolic Diseases, Hayatabad Medical Complex, Peshawar. Read More

    A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery.
    Horm Res Paediatr 2016 15;86(1):62-9. Epub 2016 Jun 15.
    Background: Mutations in OTX2 cause hypopituitarism, ranging from isolated growth hormone deficiency to combined pituitary hormone deficiency (CPHD), which are commonly detected in association with severe eye abnormalities, including anophthalmia or microphthalmia. Pituitary phenotypes of OTX2 mutation carriers are highly variable; however, ACTH deficiency during the neonatal period is not common in previous reports.

    Objective: We report a novel missense OTX2 (R89P) mutation in a CPHD patient with severe hypoglycemia in the neonatal period due to ACTH deficiency, bilateral microphthalmia, and agenesis of the left internal carotid artery (ICA). Read More

    The use of a three-dimensional endoscope for different skull base tumors: results of a preliminary extended endonasal surgical series.
    Acta Neurochir (Wien) 2016 Aug 8;158(8):1605-16. Epub 2016 Jun 8.
    Unit of Otorhinolaryngology, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
    Background: The evolution of skull base surgery over the past decade has been influenced by advancement in visualization technology. Recently, as a result of such improvements, three-dimensional (3-D) scopes have been widely used during endoscopic endonasal approaches. In the present study, we describe the use of 3-D stereoscopic endoscope for the treatment of a variety of skull base lesions. Read More

    Panhypopituitarism due to Absence of the Pituitary Stalk: A Rare Aetiology of Liver Cirrhosis.
    Case Rep Endocrinol 2016 24;2016:9071097. Epub 2016 Apr 24.
    Internal Department, Hospital Universitario Río Hortega, Valladolid, Spain.
    Studies have established a relationship between hypothalamic-pituitary dysfunction and the onset of liver damage, which may occasionally progress to cirrhosis. Patients with hypopituitarism can develop a metabolic syndrome-like phenotype. Insulin resistance is the main pathophysiological axis of metabolic syndrome and is the causal factor in the development of nonalcoholic fatty liver disease (NAFLD). Read More

    Sphenoid mucocele with unusual panhypopituitarism.
    BMJ Case Rep 2016 Apr 5;2016. Epub 2016 Apr 5.
    Dr R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
    A 13-year-old boy presented with bilateral progressive proptosis, abduction deficit, optic atrophy and features suggestive of hypopituitarism secondary to a sphenoid sinus mucocele. Drainage of the mucocele along with hormone replacement therapy resulted in improvement in visual acuity and abduction. Read More

    Infundibuloneurohypophysitis Associated With Sjögren Syndrome Successfully Treated With Mycophenolate Mofetil: A Case Report.
    Medicine (Baltimore) 2016 Mar;95(13):e3132
    From the Department of Internal Medicine (CL, VG, VR, MR, GLG) and Department of Radiology (MT), Centre Hospitalier Universitaire Estaing; and Department of Endocrinology and Diabetology (SM), Centre Hospitalier Universitaire Gabriel Montpied, Clermont-Ferrand, France.
    Hypophysitis is an inflammatory disorder of the pituitary gland and corticosteroids are usually recommended as the first-line treatment. Hypophysitis related to primary Sjögren syndrome (pSS) is uncommon. We describe the unusual case of a patient with infundibuloneurohypophysitis associated with pSS successfully treated with mycophenolate mofetil (MMF). Read More

    HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
    Clin Endocrinol (Oxf) 2016 Sep 28;85(3):408-14. Epub 2016 Apr 28.
    Division of Endocrinology, Unit of Endocrinology and Development, Laboratory of Hormones and Molecular Genetics, Clinical Hospital of the Faculty of Medicine of the University of São Paulo, São Paulo, Brazil.
    Introduction: Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD) with or without septo-optic dysplasia (SOD). So far there is no clear genotype-phenotype correlation.

    Patients And Results: We report four different recessive loss-of-function mutations in three unrelated families with CPHD and no midline defects or SOD. Read More

    Effect of Growth Hormone on Endometrial Thickness and Fertility Outcome in the Treatment of Women with Panhypopituitarism: A Case Report.
    J Reprod Med 2016 Jan-Feb;61(1-2):78-82
    Background: The role of growth hormone (GH) in female reproduction has become a topic of increasing interest over the last decade. The replacement of GH for ovulation induction in women with hypopituitarism remains controversial. The role of GH in the human endometrium is still largely unknown. Read More

    Reasons and results of endoscopic surgery for prolactinomas: 142 surgical cases.
    Acta Neurochir (Wien) 2016 May 12;158(5):933-42. Epub 2016 Mar 12.
    Faculty of Medicine, Department of Neurosurgery, Hacettepe University, Ankara, Turkey.
    Background: We report herein a retrospective analysis of the results of 142 consecutive prolactinoma cases operated upon using an endoscopic endonasal trans-sphenoidal approach over a period of 6 years.

    Methods: Medical records of 142 cases were analysed with respect to indications for surgery, duration of hospital stay, early remission rates, failures and recurrence rates during a median follow-up of 36 months.

    Results: On the basis of magnetic resonance imaging (MRI) data, 19 patients (13. Read More

    A case report of severe panhypopituitarism in a newborn delivered by a women with Turner syndrome.
    Neuro Endocrinol Lett 2015 ;36(8):734-6
    Children's University Hospital, Krakow, Poland.
    Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). Read More

    Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes.
    Eur J Endocrinol 2016 May 17;174(5):669-79. Epub 2016 Feb 17.
    Department of PediatricsOregon Health and Science University, Portland, Oregon, USA.
    Objective: To determine characteristics of children initially diagnosed with isolated growth hormone deficiency (IGHD) of organic aetiology, who later developed multiple pituitary hormone deficiencies (MPHD).

    Design: Data were analysed for 716 growth hormone-treated children with organic IGHD, who were growth hormone-naïve at baseline in the multinational, observational Genetics and Neuroendocrinology of Short Stature International Study.

    Methods: Development of MPHD was ascertained from investigator-provided diagnoses, adverse events and concomitant medications. Read More

    Diabetes insipidus following neurosurgery at a university hospital in Western Saudi Arabia.
    Saudi Med J 2016 Feb;37(2):156-60
    Department of Internal Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. E-mail.
    Objectives: To review the incidence, spectrum of clinical manifestation, course, risk factors, as well as treatment of diabetes insipidus (DI) following neurosurgery of the pituitary gland.

    Methods: The files of 24 patients that underwent neurosurgery for sellar lesions, or tumor near the hypothalamus or pituitary gland at the Department of Neurosurgery, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia were retrospectively reviewed between January 2011 to December 2014. A total of 24 patients were studied, and were divided into 2 groups namely; DI and non-DI. Read More

    [A 21-year old patient with hypernatraemia after intracranial tumour surgery--a case report].
    Przegl Lek 2015 ;72(8):449-52
    The article concerns case of 21-year old patient after intracranial tumour surgery, who was admitted to the internal diseases department due to hypernatraemia. On the basis of the whole clinical status the patient was diagnosed with diabetes insipidus and disturbance of sensation of thirst which may in turn cause hypernatraemia. There were conducted physical examinations as well as some additional tests which allowed the diagnosis of combined pituitary hormone deficiency. Read More

    HORMONE SUBSTITUTION AFTER GASTRIC BYPASS SURGERY IN PATIENTS WITH HYPOPITUITARISM SECONDARY TO CRANIOPHARYNGIOMA.
    Endocr Pract 2016 May 20;22(5):595-601. Epub 2016 Jan 20.
    Objective: Craniopharyngiomas (CPs) are benign brain tumors presenting frequently in childhood and are treated by surgery with or without radiotherapy. About 50% of cured patients suffer from eating disorders and obesity due to hypothalamic damage, as well as hypopituitarism, necessitating subsequent hormone substitution therapy. Gastric bypass surgery has been reported to be an efficient treatment strategy for morbid hypothalamic obesity. Read More

    Bilateral femoral head avascular necrosis with a very low dose of oral corticosteroid used for panhypopituitarism.
    BMJ Case Rep 2016 Jan 13;2016. Epub 2016 Jan 13.
    Department of Endocrinology, Dr RML Hospital, New Delhi, India.
    Avascular necrosis (AVN) of the femoral head is a rare complication related to glucocorticoid administration and traditionally has been associated with high doses and/or prolonged therapy. Occurrence of osteonecrosis with a physiological replacement dose of glucocorticoids has not been reported previously. We report a 38-year-old man with non-secreting pituitary adenoma who developed bilateral AVN while on a very small dose of oral prednisolone for secondary adrenal insufficiency after surgery for pituitary adenoma. Read More

    Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview.
    Dermatology 2016 8;232(2):171-6. Epub 2016 Jan 8.
    Departamento de Neurologx00ED;a, Clx00ED;nica Las Condes, Santiago, Chile.
    A young male presented with panhypopituitarism (including diabetes insipidus) and temporal lobe epilepsy. A histology specimen of cutaneous papules was diagnostic of non-Langerhans histiocytosis. The diagnosis of xanthoma granulomata was considered based on the clinical and brain MRI findings. Read More

    MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
    Eur J Endocrinol 2016 Jun 5;174(6):R239-47. Epub 2016 Jan 5.
    Aix-Marseille UniversitéCNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, FranceDepartment of EndocrinologyAPHM, Hôpital La Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, 13385 cedex 5 Marseille, FranceCentre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY13385 cedex 15 Marseille, FranceAPHMHôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, 13385 cedex 5 Marseille, FranceAPHMHôpital de la Conception, Laboratoire de Biologie Moléculaire, 13005 Marseille, France Aix-Marseille UniversitéCNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, FranceDepartment of EndocrinologyAPHM, Hôpital La Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, 13385 cedex 5 Marseille, FranceCentre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY13385 cedex 15 Marseille, FranceAPHMHôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, 13385 cedex 5 Marseille, FranceAPHMHôpital de la Conception, Laboratoire de Biologie Moléculaire, 13005 Marseille, France Aix-Marseille UniversitéCNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille CRN2M UMR 7286, 13344 cedex 15 Marseille, FranceDepartment of EndocrinologyAPHM, Hôpital La Conception, Service d'Endocrinologie, Diabète et Maladies Métaboliques, 13385 cedex 5 Marseille, FranceCentre de Référence des Maladies Rares d'Origine Hypophysaire DEFHY13385 cedex 15 Marseille, FranceAPHMHôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, 13385 cedex 5 Marseille, FranceAPHMHôpital de la Conception, Laboratoire de Biologie Moléculaire, 13005 Marseille, France
    Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes of inheritance for alterations of genes encoding transcription factors have also been described. Finally, actors known to be involved in a very specific phenotype (hypogonadotroph hypogonadism for instance) have been identified in a wider range of phenotypes. Read More

    Questioning the role of pituitary oxytocin in parturition: spontaneous onset of labor in women with panhypopituitarism--a case series.
    Eur J Obstet Gynecol Reprod Biol 2016 Feb 29;197:83-5. Epub 2015 Nov 29.
    Lis Maternity Hospital, Obtsterics and Gynecology, Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, Israel.
    Objective: Oxytocin, a nanopeptide secreted by the posterior pituitary gland, has well-established uterotonic activity. Its role in initiating the vigorous and regular contractions of the first stage of labor is still controversial. We report four cases of panhypopituitarism who had spontaneous onset of labor, undermining the role of maternal oxytocin in the first phase of labor. Read More

    Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
    J Appl Genet 2016 Aug 25;57(3):373-81. Epub 2015 Nov 25.
    Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355, Poznan, Poland.
    The role of genetic background in childhood-onset combined pituitary hormone deficiency (CPHD) has been extensively studied. The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis. The clinical consequences of mutations encompass impaired synthesis of a growth hormone (GH) and one or more concurrent pituitary hormones (i. Read More

    VARIATIONS IN CLINICAL AND IMAGING FINDINGS BY TIME OF DIAGNOSIS IN FEMALES WITH HYPOPITUITARISM ATTRIBUTED TO LYMPHOCYTIC HYPOPHYSITIS.
    Endocr Pract 2016 Apr 23;22(4):447-53. Epub 2015 Nov 23.
    Objective: To describe the various patterns of presentation, including assisting analyses, associated with the timing of diagnosis of females with hypopituitarism and suspected clinical diagnosis of lymphocytic hypophysitis.

    Methods: A retrospective study of 9 consecutive females with pituitary dysfunction developed during or after pregnancy. All subjects were treated in our clinics between 2008 and 2014. Read More

    MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.
    Eur J Endocrinol 2016 Apr 17;174(4):R145-73. Epub 2015 Nov 17.
    Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
    The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Read More

    Pituitary metastasis of hepatocellular carcinoma presenting with panhypopituitarism: a case report.
    BMC Cancer 2015 Nov 6;15:863. Epub 2015 Nov 6.
    Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka Shimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui, 910-1193, Japan.
    Background: Metastasis to the pituitary gland is extremely rare and is often detected incidentally by symptoms associated with endocrine dysfunction. Breast and lung cancer are the most common primary metastasizing to pituitary gland. Metastasis from hepatocellular carcinoma to the pituitary gland is extremely rare, with only 10 cases having been previously reported. Read More

    Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.
    BMJ Case Rep 2015 Nov 3;2015. Epub 2015 Nov 3.
    Department of Neurological sciences, University of Vermont, Burlington, Vermont, USA.
    A 37-year-old man with a known history of neurofibromatosis 1 (NF1) presented within 2 days of diarrhoeal illness followed by encephalopathy, facial twitching, hypoglycaemia, hypotension, tachycardia and low-grade fever. Examination showed multiple café-au-lait spots and neurofibromas over the trunk, arms and legs and receptive aphasia with right homonymous hemianopia, which resolved. Workup for cardiac, inflammatory and infectious aetiologies was unrevealing. Read More

    Recovery of HPA Axis Function After Successful Gonadotropin-Induced Pregnancy and Delivery in a Woman With Panhypopituitarism: Case Report and Review.
    Medicine (Baltimore) 2015 Sep;94(39):e1607
    From the Department of Endocrinology and Metabolism, Huashan Hospital, Fudan University, Shanghai (YW, QZ, XZ, MH, YL, HY); Assistant Reproductive Technology Center, First Maternity and Infant Health Hospital, Tongji University, Shanghai (JY); and Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai (XS, SL, YW).
    Hypopituitarism is defined as the partial or complete defect of anterior pituitary hormone secretion. Patients with hypopituitarism usually need life-long hormone replacement therapy. However, in this case, we report a patient with panhypopituitarism whose hypothalamus-pituitary-adrenal (HPA) axis function was completely recovered after pregnancy and delivery. Read More

    Hypogonadotropic Hypogonadism in Infants with Congenital Hypopituitarism: A Challenge to Diagnose at an Early Stage.
    Horm Res Paediatr 2015 11;84(5):289-97. Epub 2015 Sep 11.
    Centro de Investigaciones Endocrinolx00F3;gicas x2018;Dr. Cx00E9;sar Bergadx00E1;' (CEDIE), Divisix00F3;n de Endocrinologx00ED;a, Hospital de Nix00F1;os Ricardo Gutix00E9;rrez, Buenos Aires, Argentina.
    Background: Combined pituitary hormone deficiency (CPHD) presents a wide spectrum of pituitary gland disorders. The postnatal gonadotropic surge provides a useful period to explore the gonadotropic axis for assessing the presence of congenital hypogonadotropic hypogonadism (CHH).

    Aim: To explore the functioning of the hypothalamic-pituitary-gonadal axis in the postnatal gonadotropic surge for an early diagnosis of CHH in newborns or infants suspected of having CPHD. Read More

    Traumatic panhypopituitarism resulting in acute adrenal crisis.
    J Trauma Acute Care Surg 2015 Sep;79(3):484-9
    From the Departments of Surgery (P.B.H., C.J.M., L.S.Y., A.M.A.), and Endocrinology (A.A), Medical College of Georgia (A.J.C.), Georgia Regents University, Augusta, Georgia.
    Pituitary function plays an integral role in the physiologic response to traumatic injury. A significant proportion of trauma patients develop partial pituitary insufficiency. While isolated deficiencies of individual pituitary hormones are common, there are few reports in the literature of traumatic pan-pituitary failure with deficiency of all major pituitary hormones. Read More

    Addisonian Crisis after Missed Diagnosis of Posttraumatic Hypopituitarism.
    J Clin Med 2015 May 15;4(5):965-9. Epub 2015 May 15.
    Department of Neurosurgery, University Hospital Essen, 45147 Essen, Germany.
    We report a case of a previously undiagnosed panhypopituitarism initially presenting as a full-blown Addisonian crisis with hypoglycemia, hyponatremia, hypotension and neuropsychological symptoms, more than 30 years after a severe traumatic brain injury (TBI). The patient also displayed clearly visible pathognomonic clinical signs of long-standing pituitary dysfunction. The case highlights the importance of being aware of endocrine sequelae even decades after serious TBI. Read More

    The confounding effect of the development of idiopathic orthostatic edema and thyrotoxcosis on weight fluctuation related to effects on free water clearance in a woman with long-standing surgically induced panhypopituitarism and diabetes insipidus.
    Clin Exp Obstet Gynecol 2015 ;42(3):376-7
    Purpose: To evaluate the effect of idiopathic orthostatic edema and the effect of thyrotoxicosis on weight fluctuation and fluid retention in the presence of surgically induced panhypopituitarism and diabetes insipidus controlled with hormone replacement.

    Materials And Methods: Dextroamphetamine sulfate was used for weight gain when no other etiologic factor was found. Methimazole was used when weight loss occurred when serum T4 and free T4 indicated thyrotoxicosis. Read More

    Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
    Clin Endocrinol (Oxf) 2015 Dec 6;83(6):849-60. Epub 2015 Aug 6.
    Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont and IRCAD, Novara, Italy.
    Objective: Combined pituitary hormonal deficiency (CPHD) can result from mutations within genes that encode transcription factors. This study evaluated the frequency of mutations in these genes in a cohort of 144 unrelated Italian patients with CPHD and estimated the overall prevalence of mutations across different populations using a systematic literature review.

    Material And Methods: A multicentre study of adult and paediatric patients with CPHD was performed. Read More

    Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients.
    Hum Reprod 2015 Sep 3;30(9):2031-7. Epub 2015 Jul 3.
    Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Beijing 100730, China
    Study Question: Do patients with congenital combined pituitary hormone deficiency (CCPHD) have different responses to gonadotrophin-induced spermatogenesis compared with those with idiopathic hypogonadotropic hypogonadism (IHH)?

    Summary Answer: CCPHD patients have a better response to gonadotrophin therapy than IHH patients.

    What Is Known Already: Gonadotrophins are effective in inducing spermatogenesis in patients with hypogonadotropic hypogonadism.

    Design, Size And Duration: This retrospective cohort study included 75 patients, 53 of whom had IHH and 22 CCPHD. Read More

    Surgery induced hypopituitarism in acromegalic patients: a systematic review and meta-analysis of the results.
    Pituitary 2015 Dec;18(6):844-60
    Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal.
    Purpose: Hypopituitarism is a possible complication of the surgical treatment of acromegaly. However, there is a wide variability in the incidence rates of surgery-induced hypopituitarism. The purpose of this study was the systematic collection and synthesis of information on the incidence rates of hypopituitarism, panhypopituitarism, specific axis deficiencies and diabetes insipidus after surgery for acromegaly treatment. Read More

    Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
    Horm Res Paediatr 2015 24;84(3):153-8. Epub 2015 Jun 24.
    Department of Pediatric Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Centre, Ljubljana, Slovenia.
    Background/aims: The HESX1 gene is essential in forebrain development and pituitary organogenesis, and its mutations are the most commonly identified genetic cause of septo-optic dysplasia (SOD). The PROP1 gene is involved in anterior pituitary cell lineage specification and is commonly implicated in non-syndromic combined pituitary hormone deficiency (CPHD). We aimed to assess the involvement of HESX1 and PROP1 mutations in a cohort of patients with SOD and CPHD. Read More

    Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
    Eur J Hum Genet 2016 Mar 10;24(3):415-20. Epub 2015 Jun 10.
    Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
    Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Read More

    Intracranial toxoplasmosis presenting as panhypopituitarism in an immunocompromised patient.
    Am J Emerg Med 2015 Dec 9;33(12):1848.e1-2. Epub 2015 May 9.
    Creighton University School of Medicine, Department of Internal Medicine, Omaha, NE, USA.
    A 37-year-old man presented with worsening headache, vomiting, and right-sided weakness over the last few weeks. A head computed tomography showed a left hemispheric posterior medial parietal lobe lesion with surrounding edema. Further imaging with magnetic resonance imaging showed multiple enhancing mass lesions. Read More

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