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J Hum Genet 2019 Apr 28;64(4):341-346. Epub 2019 Jan 28.

Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, 852-8501, Japan.

The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1 have been described in patients with pituitary stalk interruption syndrome. Herein, we identified a novel homozygous slice site mutation in ROBO1 (c. Read More

World Neurosurg 2019 Jan 17. Epub 2019 Jan 17.

Capital Medical University, Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Beijing Institute for Brain Disorders Brain Tumor Center, China National Clinical Research Center for Neurological Diseases, Key Laboratory of Central Nervous System Injury Research, Beijing, China. Electronic address:

Objective: The aim of this study was to evaluate the long-term clinical outcomes of Gamma Knife radiosurgery (GKRS) for residual and recurrent nonfunctioning pituitary adenomas (NFPAs) after surgery and the role of GKRS in the management of NFPAs.

Methods: Between January 2000 and December 2010, 204 patients with residual or recurrent NFPAs undergoing GKRS were enrolled in this study according to the inclusion criteria. The median age of the patients was 48 years (mean, 48 years; range, 14-79 years). Read More

Clin Endocrinol (Oxf) 2019 Apr 11;90(4):506-516. Epub 2019 Feb 11.

Department of Endocrinology, St Vincent's University Hospital, Dublin, Ireland.

Patients with craniopharyngioma experience excess morbidity and mortality when compared with the background population and with other hypopituitary patients. Large, suprasellar tumours which form micropapillae into surrounding structures can cause hypothalamic damage before any therapeutic intervention; attempted gross total resection can lead to hypothalamic obesity, sleep disorders, thirst disorders and dysregulation of temperature as well as panhypopituitarism. The management of tumour bulk and the pathophysiology of hypothalamic complications have been reviewed extensively. Read More

Endocrine 2018 Dec 19. Epub 2018 Dec 19.

Department of Neurosurgery, Huashan Hospital, Shanghai, China.

Purpose: Craniopharyngioma is associated with an increased risk of mortality even after surgical, radiotherapeutic and hormone supplementations. Previous studies using different designs showed a possible trend of decreasing mortality in recent years. This review summarises studies reporting standardised mortality ratio (SMR) after craniopharyngioma treatment, as well as the bias and confounding in these studies to plan further researches. Read More

J Neurosurg 2018 Dec;129(Suppl1):47-54

3Department of Neurosurgery.

OBJECTIVEThis study investigated long-term follow-up data on the combined pituitary function test (CPFT) in patients who had undergone transsphenoidal surgery (TSS) for nonfunctioning pituitary adenoma (NFPA) to determine the clinical parameters indicative of hypopituitarism following postoperative Gamma Knife surgery (GKS).METHODSBetween 2001 and 2015, a total of 971 NFPA patients underwent TSS, and 76 of them (7.8%) underwent postoperative GKS. Read More

Klin Onkol 2018 ;31(5):371-375

Background: Brain metastases are one of the main causes of morbidity and mortality of patients with oncological disease. In non-small cell lung carcinoma (NSCLC), the risk of CNS secondary development is 30-50%. An unusual diagnostic and therapeutic problem is the finding of suspicious pituitary lesions. Read More

Endocrinol Diabetes Metab Case Rep 2018 Nov 22;2018. Epub 2018 Nov 22.

Division of Pediatric Endocrinology, Children's Hospital of Orange County, Orange, California, USA.

In this case report, we present a novel mutation in Lim-homeodomain (LIM-HD) transcription factor, LHX3, manifesting as combined pituitary hormone deficiency (CPHD). This female patient was originally diagnosed in Egypt during infancy with Diamond Blackfan Anemia (DBA) requiring several blood transfusions. Around 10 months of age, she was diagnosed and treated for central hypothyroidism. Read More

Neuro Endocrinol Lett 2018 Sep;39(3):196-204

Radiology Department, Third Faculty of Medicine, Charles University, Faculty Hospital Kralovske Vinohrady, Prague, Czech Republic.

Objectives: Immune checkpoints inhibitors (ICI) represent a new therapy option for the treatment of several advanced tumors. However, this therapy has been linked to a spectrum of ICI related autoimmune (AI) adverse events. Some may be life threatening and their diagnosis is tricky. Read More

Pituitary 2019 Feb;22(1):13-28

Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1 Shuaifuyuan, Dongcheng District, Beijing, 100730, People's Republic of China.

Purpose: Coagulative necrotic pituitary apoplexy (CNPA) is a clinical entity with unique intraoperative and histopathological manifestations. We aimed to improve the knowledge of this rare disease through the largest case series published to date.

Methods: A retrospective review of 21 CNPA patients was performed from among 5095 patients who underwent surgery for pituitary adenomas at a single institution between January 2009 and June 2017. Read More

Eur J Hum Genet 2019 Feb 27;27(2):216-225. Epub 2018 Sep 27.

Aix Marseille Univ, APHM, INSERM, MMG, Hôpital de la Conception, Department of Endocrinology, Marseille, France.

LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant of LHX3 NM_178138.5(LHX3):c. Read More

Horm Metab Res 2018 Sep 5;50(9):690-695. Epub 2018 Sep 5.

Endocrinology Division, Department of Clinical Medicine, University of Campinas, Campinas, São Paulo, Brazil.

A complete deficiency of anterior pituitary hormones from several etiologies characterizes Panhypopituitarism (PH). Despite advances in treatment, patients with PH maintain high rates of morbidity and mortality, a reason to investigate some insulin sensitivity, metabolic and inflammatory parameters that could be related to the increase of these indicators. This was a cross-sectional study comprising 41 PH patients under hormonal replacement, except for growth hormone, and 37 individuals in a control group (CG) with similar age, gender and body mass index (BMI). Read More

Acta Neurol Belg 2018 Aug 20. Epub 2018 Aug 20.

Department of Neurology and Psychiatry, Neurosurgery, 'Sapienza' University of Rome, Rome, Italy.

Lymphocytic hypophysitis is an uncommon autoimmune disease. It may involve the adenohypophysis, neurohypophysis and pituitary stalk. It is most often encountered in pregnant women. Read More

Endocrinology 2018 09;159(9):3287-3305

Department of Biological Sciences, University of South Carolina, Columbia, South Carolina.

The pituitary gland is a critical organ that is necessary for many physiological processes, including growth, reproduction, and stress response. The secretion of pituitary hormones from specific cell types regulates these essential processes. Pituitary hormone cell types arise from a common pool of pituitary progenitors, and mutations that disrupt the formation and differentiation of pituitary progenitors result in hypopituitarism. Read More

J Neurosurg 2018 Jul 1:1-6. Epub 2018 Jul 1.

Departments of1Neurological Surgery and.

OBJECTIVEThe endoscopic endonasal transcavernous approach with interdural pituitary transposition provides surgical access to the posterior clinoids and interpeduncular cistern. Prior to posterior clinoidectomy, selective coagulation and transection of the inferior hypophyseal artery (IHA) is recommended to prevent uncontrolled tearing of the artery and its avulsion from the wall of the cavernous carotid artery. The authors' preliminary experience has shown that unilateral sacrifice of the IHA caused no permanent endocrine dysfunction. Read More

J Neurosurg 2018 May 1:1-9. Epub 2018 May 1.

1Department of Neurosurgery, Division of Endocrinology.

OBJECTIVEIncidental pituitary adenomas (IPAs) are commonly discovered during cranial imaging evaluations obtained for unrelated indications. The optimal management of IPA remains controversial. The authors investigated the outcomes and safety of the surgical treatment of IPAs at their institution. Read More

Medicina (B Aires) 2018;78(3):194-196

Servicio de Neurocirugía, Hospital Italiano de Buenos Aires, Argentina.

IgG4-related disease (IgG4-RD) is a recently described systemic entity of unknown origin. It predominantly affects older men and has distinctive histopathologic features as storiform fibrosis, obliterative phlebitis, dense lymphoplasmacytic infiltrate with immunostaining for IgG4, and it may be associated with elevated serum levels of IgG4. Although any organ can be affected, pituitary gland is rarely involved. Read More

QJM 2018 Oct;111(10):731-732

From the Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Int J Endocrinol 2018 20;2018:7637435. Epub 2018 Mar 20.

Key Laboratory of Endocrinology of National Health and Family Planning Commission, Department of Endocrinology, Peking Union Medical College, Beijing 100730, China.

This study aims to outline the clinical features and outcomes of IgG4-related hypophysitis (IgG4-RH) patients in a tertiary medical center. We reviewed clinical manifestations and imaging and pituitary function tests at baseline, as well as during follow-up. Ten patients were included. Read More

Mol Genet Genomic Med 2018 May 8. Epub 2018 May 8.

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

Background: Congenital Hypopituitarism is caused by genetic and environmental factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone deficiency. The etiology remains unknown for up to 80% of the patients, but most cases have been analyzed by limited candidate gene screening. Read More

Intern Med J 2018 05;48(5):580-582

Department of Neurology, Royal Hobart Hospital, Hobart, Tasmania, Australia.

Hypothalamic involvement in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) is rare and endocrinopathies involving the hypothalamic-pituitary axis in patients with demyelinating conditions have rarely been reported. We present two cases of MS/NMOSD with associated hypothalamic-pituitary involvement and subsequent hypopituitarism, including the first report of a patient with hypothalamic demyelination causing panhypopituitarism. Differential diagnoses, including alemtuzumab-related and primary pituitary pathology are discussed. Read More

Ital J Pediatr 2018 Apr 6;44(1):47. Epub 2018 Apr 6.

Department of Human Pathology in Adulthood and Childhood, University of Messina, Via Consolare Valeria, 98124, Messina, Italy.

Endocr Pract 2018 Oct 6;24(10):934. Epub 2018 Apr 6.

From the 1Department of Endocrinology, Tan Tock Seng Hospital, Singapore.

World Neurosurg 2018 Jun 21;114:e824-e832. Epub 2018 Mar 21.

Department of Neurosurgery, Louisiana State University Health Sciences Center, Shreveport, Louisiana, USA. Electronic address:

Introduction: Stereotactic radiosurgery (SRS), particularly Gamma Knife radiosurgery (GKRS) is an established treatment option for residual and recurrent pituitary adenoma tumors. It helps in the preservation of surrounding normal neuronal, vascular, and hormone-producing structures and causes fewer neurologic deficits. The aim of this research was to evaluate the efficacy and define the role of GKRS in the treatment of nonfunctioning (NFA) and hormonal active (HAA) pituitary adenoma. Read More

Zh Vopr Neirokhir Im N N Burdenko 2018 ;82(1):13-21

Burdenko Neurosurgery Institute, 4-ya Tverskaya-Yamskaya Str., 16, Moscow, Russia, 125047.

The pituitary stalk (PS) is a relatively thin bundle connecting the hypophyseal stalk to the pituitary gland; it consists of both axons of the hypothalamic nuclei (terminating in the neurohypophysis) and the system of portal vessels. Compression of the PS by a space-occupying lesion or its transection (forced or intended) during surgery may lead to the development of endocrine disorders: hypopituitarism, diabetes insipidus, and hyperprolactinemia. The modern literature lacks studies evaluating the severity of endocrine disorders depending on the PS condition before and after surgery. Read More

Zhonghua Nei Ke Za Zhi 2018 Mar;57(3):201-205

Department of Endocrinology, Chinese PLA General Hospital, Beijing 100853, China.

To evaluate the clinical characteristics and etiologies of central diabetes insipidus (CDI). The clinical data of 230 patients with CDI in the Department of Endocrinology of Chinese PLA General Hospital from 2008 June to 2014 December were collected and analyzed retrospectively. The three most common causes of CDI were idiopathic CDI, lymphocytic hypophysitis and intracranial germ cell tumors. Read More

J Neurovirol 2018 Jun 5;24(3):382-387. Epub 2018 Mar 5.

Premedical Science, College of Medicine, Chosun University, Gwangju, Republic of Korea.

Central diabetes insipidus (DI) was detected in a patient with hemorrhagic fever with renal syndrome (HFRS) who had been molecularly and serologically diagnosed with Hantaan virus infection. We recommend that clinicians differentiate central DI in HFRS patients with a persistent diuretic phase even when pituitary MRI findings are normal. Read More

Orv Hetil 2018 Feb;159(7):278-284

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.

Developmental disorders affecting the hypothalamic-pituitary system can result in pituitary hormone deficiency showing a diverse clinical presentation. A significant majority of these disorders are closely linked to defects in transcription factor genes which play a major role in pituitary development. Those affecting the early phase of organogenesis typically lead to complex conditions affecting the pituitary as well as structures in the central nervous system. Read More

J Neurol Surg B Skull Base 2018 Feb 18;79(2):S196-S198. Epub 2018 Jan 18.

Department of Otorhinolaryngology, University of Insubria - Ospedale di Circolo Fondazione Macchi, Varese, Italy.

 We illustrate a suprasellar craniopharyngiomas treated with an extended endoscopic endonasal approach (EEEA).  Case report of a 43-year-old male affected by cerebral lesion located in suprasellar region involving the third ventricle and compressing the neurovascular structures, causing an anterosuperior dislocation of the chiasma. There is a complete disruption of the pituitary stalk that can explain the clinical finding of partial anterior hypopituitarism and hyperprolactinemia. Read More

Ceylon Med J 2017 12;62(4):246-47

J Pediatr Endocrinol Metab 2018 Jan;31(2):175-184

Istanbul University, Faculty of Medicine, Institute of Child Health, Department of Pediatric Endocrinology, Istanbul, Turkey.

Background: The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty).

Methods: Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. Read More

Zhonghua Yi Xue Za Zhi 2018 Jan;98(1):19-24

Department of Neurosurgery, Nanfang Hospital of Southern Medical University, Guangzhou 510515, China.

To investigate the pituitary hormone changes of patients with craniopharyngioma of different growth patterns during perioperative period and follow up time. Retrospective studies were performed on 212 cases of primary craniopharyngioma patient who received total tumor excision surgery in our hospital from January 2001 to May 2012. The characteristics of pituitary hormone and associated clinical manifestation during preoperative, perioperative and postoperative periods were analyzed according to the QST surgical classification. Read More

Arch Argent Pediatr 2018 Feb;116(1):e130-e134

Tepecik Training and Research Hospital, Department of Neonatology, Izmir,Turkey.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Read More

J Clin Endocrinol Metab 2018 03;103(3):1042-1047

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Context: Persistent hypoglycemia in the newborn period most commonly occurs as a result of hyperinsulinism. The phenotype of hypoketotic hypoglycemia can also result from pituitary hormone deficiencies, including growth hormone and adrenocorticotropic hormone deficiency. Forkhead box A2 (Foxa2) is a transcription factor shown in mouse models to influence insulin secretion by pancreatic β cells. Read More

J Assoc Physicians India 2017 12;65(12):20-23

Junior Resident, Deptt. of Medicine, IGMC, Shimla.

Background: Panhypopituitarism is a rare disorder with varied clinical presentation having various etiologies. Sheehan's syndrome (SS) is decreasing in frequency worldwide and is a rare cause of panhypopituitarism in developed nations.

Methodology: A retrospective study done between May 2011 and May 2015 in tertiary care hospital. Read More

J Radiol Case Rep 2017 Sep 30;11(9):28-34. Epub 2017 Sep 30.

Department of Radiology, Harlem Hospital Center, New York, USA.

We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with hypopituitarism as well as heterotaxy syndrome complicated by global developmental delay and growth retardation. The clinical and laboratory workup of our patient suggested underlying hypopituitarism related to either congenital or acquired pathology, necessitating MRI to distinguish between them. We explain the various structural causes of hypopituitarism and detail how to predict the MRI findings and treatment, based on a fundamental understanding of the anatomy and pathophysiology of the hypothalamic pituitary axis and distinguishing anterior versus posterior pituitary hormone derangements. Read More

Genet Med 2018 07 26;20(7):728-736. Epub 2017 Oct 26.

Department of Human Molecular Genetics, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany.

Purpose: Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its etiology, but defects in known genes account for only a small proportion of cases.

Methods: To identify novel genetic causes for congenital hypopituitarism, we performed exome-sequencing studies on 10 patients with CPHD and their unaffected parents. Read More

Pituitary 2018 Feb;21(1):76-83

Academic Center for Growth Disorders, Erasmus MC Rotterdam, Rotterdam, The Netherlands.

Purpose: Mutation frequencies of PROP1, POU1F1 and HESX1 in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between populations. They are low in sporadic CPHD patients in Western Europe. However, most clinicians still routinely send DNA of their CPHD patients for genetic screening of these pituitary transcription factors. Read More

Endocr Connect 2018 Jan 12;7(1):211-219. Epub 2017 Dec 12.

Department of Clinical and Experimental MedicineUniversity of Catania, Catania, Italy

Objective: Adrenal insufficiency (AI) is a chronic condition associated with increased mortality and morbidity. The treatment of AI in the last years has been object of important changes due to the development of a dual-release preparation of hydrocortisone. It differs from previous therapeutic strategy as it contemplates a once-daily tablet that allows more closely mimicking the physiological circadian cortisol rhythm. Read More

Endocr Regul 2017 Oct;51(4):213-215

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Objectives: Hypophysitis is a heterogeneous inflammatory disease of pituitary gland. As it causes headache and visual defects, it mimics sellar tumors in clinical and radiological aspects. It may occur due to primary or secondary causes. Read More

Front Endocrinol (Lausanne) 2017 13;8:309. Epub 2017 Nov 13.

Faculty of Science, Department of Anthropology and Human Genetics, Charles University, Prague, Czechia.

Background: Hypopituitarism as a result of PROP1 (prophet of PIT1) mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood.

Case Description: We present a unique case report of a prepubertal woman with growth retardation in whom combined pituitary hormone deficiency [central hypopituitarism, hypogonadism, and growth hormone (GH) deficiency] caused by homozygous mutation c.150delA in the PROP1 gene was diagnosed late in young adulthood due to unfavorable life circumstances. Read More

J Pediatr Endocrinol Metab 2017 Nov;30(12):1333-1336

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A male neonate was born at 41 weeks of gestation with a birth weight of 3320 g. Artificial respiratory management was required due to respiratory disturbance 1 h after birth, and subsequently catecholamine-refractory low cardiac output-induced shock occurred. Severe combined pituitary hormone deficiency (CPHD) was considered based on the presence of his respiratory disturbance, hypoglycemia and micropenis. Read More

Psychoneuroendocrinology 2018 02 14;88:61-69. Epub 2017 Nov 14.

Research Group Clinical Neuroendocrinology, Max Planck Institute of Psychiatry, Munich, Germany.

Despite the high prevalence of panhypopituitarism and diabetes insipidus in patients with craniopharyngioma (CP), little is known about the functioning of the neuropeptide oxytocin in these patients. This is of special interest as tumor-associated lesions often impair sites critical for oxytocin production and release, and affective dysfunction in CP links with elsewhere reported prosocial, antidepressant and anxiolytic oxytocin effects. Using a prospective study-design, we tested whether oxytocin is reduced in CP-patients, and whether altered oxytocin levels account for affective and emotional dysfunction. Read More

Eur J Med Genet 2018 Mar 24;61(3):168-172. Epub 2017 Nov 24.

Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. Read More

Turk J Pediatr 2017 ;59(1):100-103

Departments of Pediatric Endocrinology, Ümraniye Training and Research Hospital, İstanbul, Turkey.

Dursun F, Gerenli N, Kırmızıbekmez H. Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn. Turk J Pediatr 2017; 59: 100-103. Read More

Nursing 2017 Dec;47(12):26-31

Fay Mitchell-Brown is an assistant professor and Rose Stephens-DiLeo is a senior nursing student at California State University in Chico, Calif.

Growth Horm IGF Res 2017 12 19;37:19-25. Epub 2017 Oct 19.

Developmental Endocrinology Research Group, UCL Institute of Child Health and Department of Endocrinology, Great Ormond Street Hospital for Children, WC1N 1EH, London, UK. Electronic address:

Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. Read More

Clin Pediatr Endocrinol 2017 28;26(4):207-213. Epub 2017 Sep 28.

Department of Pediatrics, Jichi Children's Medical Center Tochigi, Tochigi, Japan.

Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. Read More

North Clin Istanb 2017 26;4(2):188-191. Epub 2017 Aug 26.

Department of Neonatology, Erdem Hospital, Istanbul, Turkey.

Clinical presentation of hypopituitarism may be variable in the neonate. Symptoms are generally nonspecific, ranging from absent to severe, and even life-threatening, due to adrenocorticotrophic hormone deficiency. Presently described is a case of unexplained respiratory distress and edema in a neonate. Read More

J Neurosurg 2018 Aug 15;129(2):417-424. Epub 2017 Sep 15.

OBJECTIVE Pituitary apoplexy is a clinical syndrome consisting of neurological and endocrine abnormalities secondary to hemorrhage or ischemia of an underlying pituitary adenoma. The authors investigated whether there was a significant difference in neurological, endocrine, and nonneuroendocrine outcomes for patients with pituitary apoplexy, based on the time between symptom onset and surgical intervention. METHODS The authors retrospectively analyzed the medical records of 32 patients who had presented to their institution with acute pituitary apoplexy and subsequently undergone endonasal transsphenoidal resection in the period from 2003 to 2014. Read More