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Jt Dis Relat Surg 2020 18;31(2):390-394. Epub 2020 Jun 18.

Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi, Endokrinoloji ve Metabolizma Kliniği, 06110 Dışkapı, Ankara, Türkiye.

Osteonecrosis, commonly known as avascular necrosis (AVN) of bone, is one of the universally recognized side effects of high-dose steroids and commonly involves femur head leading to significant morbidity. However, the development of AVN in the femoral head due to low-dose oral corticosteroid therapy in a short time is a rare occurrence. Management by stopping corticosteroid treatment can be challenging in many cases due to the adrenal crisis. Read More

Pituitary 2020 Aug;23(4):400-408

Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Centre of Serbia, Dr Subotic 13, 11000, Belgrade, Serbia.

Twenty years after the first description of combined hypopituitarism (CPHD) caused by PROP1 mutations, the phenotype of affected subjects is still challenging for clinicians. These patients suffer from pituitary hormone deficits ranging from IGHD to panhypopituitarism. ACTH deficiency usually develops later in life. Read More

World Neurosurg 2020 May 11;140:60-62. Epub 2020 May 11.

Department of Neurosurgery, AZ Delta, Roeselare, Belgium.

Granular cell tumors of the pituitary gland are rare, slow-growing lesions arising from the neurohypophysis or pituitary stalk. We describe an extremely rare presentation of a pituitary granular cell tumor mimicking an anterior communicating artery aneurysmal rupture with ventricular hemorrhage. The patient was admitted in a comatose state and underwent urgent bilateral external ventricular drainage. Read More

Isr Med Assoc J 2020 May;22(5):330-332

Department of Medicine, Hadassah-Hebrew University Medical Center, Ein Kerem Campus, Jerusalem, Israel.

J Neurooncol 2020 May 24;148(1):179-186. Epub 2020 Apr 24.

Department of Neurosurgery, Heping District, The First Hospital of China Medical University, Nanjing Street 155, Shenyang, 110001, China.

Purpose: Nonfunctional pituitary adenomas (NFPAs) in pediatric and adolescent age are extremely rare. This study aimed to report a series of 14 pediatric and adolescent NFPAs to assist in its clinical management.

Methods: A total of 14 consecutive patients pathologically diagnosed with NFPAs (age ≤ 20 years) were retrospectively examined, and the clinical data were analyzed. Read More

Horm Res Paediatr 2019 30;92(5):293-301. Epub 2020 Mar 30.

Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.

Introduction: Although growth hormone (GH) is essential for attainment of peak bone mass, bone health in prepubertal children with GH deficiency is not routinely evaluated. The objective of this study was to evaluate bone microarchitecture in GH-deficient (GHD) boys using high-resolution peripheral quantitative computed tomography (HR-pQCT).

Methods: Fifteen control and fifteen GHD, GH naïve pre-pubertal boys were recruited for a case-control study at a major academic center. Read More

J Clin Endocrinol Metab 2020 Jun;105(6)

Pediatric Research Center, Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki, Finland.

Context: Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown.

Objective: To describe patients with syndromic hypopituitarism due to biallelic loss-of-function variants in TBC1D32, a gene implicated in Sonic Hedgehog (Shh) signaling.

Setting: Referral center. Read More

J Neurol Surg B Skull Base 2020 Feb 21;81(1):75-81. Epub 2019 Feb 21.

Department of Otolaryngology, Head and Neck Surgery, University of Michigan, Ann Arbor, Michigan, United States.

 Management of anterior cranial base malignancies requires multidisciplinary care. Radiation therapy remains a mainstay of definitive or adjuvant treatment. Apart from primary hypothyroidism, the effects of radiation on the hypothalamic-pituitary axis after high-dose treatment of head and neck malignancies remain poorly described. Read More

Hosp Pract (1995) 2020 Feb 6;48(1):29-34. Epub 2020 Feb 6.

Departments of Neurology, Lehigh Valley Health Network, Allentown, Pennsylvania.

: Pituitary apoplexy (PA) is a rare but potentially life-threatening condition that may require urgent surgical intervention.: We report a case of a patient who was initially diagnosed with meningoencephalitis (ME) based on clinical presentation and cerebrospinal fluid (CSF) analysis, but was eventually diagnosed with PA. We present a summary of other cases reported in the literature of PA mimicking ME and analyze their clinical features and CSF findings. Read More

Case Rep Urol 2019 29;2019:4670376. Epub 2019 Dec 29.

Department of Urology, Hôtel-Dieu de France, Beirut, Lebanon.

Erdheim-Chester disease (ECD) is a rare non-Langerhans cells histiocytosis characterized by multiorgan involvement, with renal-ECD documented in over one-third of patients. Renal disease is generally asymptomatic, rarely causing hydronephrosis and kidney impairment. In addition, the diverse clinical picture of Erdheim-Chester disease arises slowly with sequential manifestations. Read More

J Clin Res Pediatr Endocrinol 2020 Jan 17. Epub 2020 Jan 17.

Çukurova University Medical Faculty, Department of Pediatrics, Division of Pediatric Endocrinology, Adana, Turkey

Objective: Mutations of genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation lead to combined pituitary hormone deficiency (CPHD). gene mutations are reported as the most frequent genetic aetiology of CHPD. The aim of this study is to describe phenotype of Turkish CPHD patients and define frequency of mutations. Read More

Cureus 2019 Dec 4;11(12):e6290. Epub 2019 Dec 4.

Internal Medicine, Saint Peters University Hospital, New Brunswick, USA.

Sheehan's syndrome is hypopituitarism due to pituitary gland necrosis resulting from hemorrhagic shock during pregnancy. It is a rare complication with varied manifestations and a considerable delay in diagnosis. We describe the case of a 36-year-old female with eight years of non-specific symptoms of generalized myalgias and intense fatigue managed symptomatically all these years. Read More

Int J Endocrinol 2019 18;2019:5382640. Epub 2019 Dec 18.

Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

Background: IgG4-related hypophysitis (IgG4-RH) is a rare disease, and its prevalence remains unclear. In recent years, an increasing number of cases have been reported because of the increasing recognition of this disease. We aimed to summarize case reports of IgG4-RH and outline the clinical features and outcomes. Read More

Vnitr Lek 2019 ;65(11):715-720

Panhypopituitarism following craniopharyngioma resection has systemic impact with potential influence on physio-logical hematopoiesis. There is a growing body of evidence of liver fibrosis/cirrhosis risk development due to altered metabolism and lipid accumulation. The authors present a case report of a woman with a history of craniopharyngioma resection followed by aggravating pancytopenia with suspected indolent lymphoproliferative disorder and possible acquired bone marrow aplasia syndrome due to paroxysmal nocturnal hemoglobinuria. Read More

World J Clin Cases 2019 Dec;7(23):4075-4083

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

Background: Non-Hodgkin's lymphoma (NHL) can involve extralymphatic organs, resulting in diverse clinical manifestations, especially if the endocrine organs are affected. This type of involvement can often be difficult to detect accurately. Until now, no patients with NHL and concomitant bilateral adrenal and hypothalamic involvement have been reported. Read More

J Pediatr Endocrinol Metab 2020 Jan;33(1):139-145

Division of Endocrinology and Metabolism, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.

Background The objective of this study was to evaluate the age at onset and frequency of individual pituitary hormone deficiencies (PHDs) in optic nerve hypoplasia (ONH). Methods We performed a retrospective chart review of patients ≤21 years of age evaluated between 1996 and 2014. Patients were included if they had: (1) ONH diagnosed by an ophthalmologist and/or magnetic resonance imaging (MRI), (2) documentation of pituitary hormone function on at least two separate occasions and (3) at least one PHD documented or a midline abnormality of the brain on MRI. Read More

Tohoku J Exp Med 2019 11;249(3):223-229

Division of Nephrology, Endocrinology and Vascular Medicine, Tohoku University Hospital.

Hypothalamic obesity is a clinical syndrome characterized by severe and refractory obesity that is caused by hypothalamic function impairment. Recently, bariatric surgery has been attempted for patients with hypothalamic obesity after craniopharyngioma, but experiences have not yet been accumulated in other hypothalamic disorders. Here, we report the case of a 39-year-old male patient with panhypopituitarism who received laparoscopic sleeve gastrectomy (LSG) after intracranial germinoma treatment. Read More

J Clin Rheumatol 2019 Dec;25(8):e145-e146

Division of Endocrinology and Metabolism Department of Internal Medicine Acibadem University School of Medicine Istanbul, Turkey Division of Rheumatology Department of Internal Medicine Acibadem University School of Medicine Istanbul, Turkey Department of Ophthalmology Acibadem University School of Medicine Istanbul, Turkey Department of Neurosurgery Kocaeli University School of Medicine Pituitary Research Center Kocaeli, Turkey.

Eur J Pediatr 2020 Jan 6;179(1):151-155. Epub 2019 Nov 6.

Paediatric Endocrinology Unit - Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure. Read More

BMC Endocr Disord 2019 Oct 29;19(1):114. Epub 2019 Oct 29.

Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background: Pituitary metastasis is a rare condition with a poor prognosis. Very few patients with pituitary metastasis are symptomatic. It is often associated with presence of co-existing metastases to other organs. Read More

Eur Heart J Case Rep 2019 Sep 18;3(3):ytz145. Epub 2019 Sep 18.

Department of Cardiac Surgery, Sir Ganga Ram Hospital, New Delhi, India.

Background: Hypopituitarism is characterized by partial or complete deficiency of vital endocrinological hormones such as steroid and thyroid hormones. Generally, normal individual can exhibit 2- to 10-folds rise in serum cortisol levels during stressful period. But patients with panhypopituitarism are more prone to develop metabolic and haemodynamic instability particularly during stressful perioperative period. Read More

J Clin Endocrinol Metab 2020 Mar;105(3)

Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon 97239.

Context: Human reproduction is mainly governed from the hypothalamic-adrenal-gonadal (HPG) axis, which controls both ovarian morphology and function. Disturbances in the secretion of other anterior pituitary hormones (and their respective endocrine axes) interfere with HPG activity and have been linked to fertility problems. In normal pregnancy, maintenance of homeostasis is associated with continuous changes in pituitary morphology and function, which need to be considered during hormone replacement in patients with hypopituitarism. Read More

Int J Pediatr Otorhinolaryngol 2020 Jan 5;128:109705. Epub 2019 Oct 5.

College of Medicine, The Ohio State University, 370 W 9th Ave, Columbus, OH, USA, 43210.

Background: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of upper airway obstruction in neonates. It can occur either associated with a solitary median maxillary central incisor (SMMCI) in 40-75% of cases or as an isolated morphogenic variant. Brain MRI is routinely performed in patients with CNPAS with a SCMMI due to the concomitant risks of intracranial midline defects of the hypothalamic-pituitary axis (HPA), holoprosencephaly, or associated endocrine dysfunction. Read More

J Endocr Soc 2019 Oct 7;3(10):1887-1891. Epub 2019 Aug 7.

Neuroendocrine and Pituitary Tumor Clinical Center, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.

Non-small cell lung cancer with pituitary metastasis (NSCLC-PM) is a devastating disease; however, treatment is being revolutionized by a novel therapy targeting highly specific tumor signals, such as the mutation of epidermal growth factor receptors (EGFRs). Long-term management of hormonal defects in this population has become a unique neuroendocrine clinical challenge. We report the case of a 73-year-old female nonsmoker who was diagnosed with stage IV non-small cell lung cancer. Read More

Oper Neurosurg (Hagerstown) 2020 May;18(5):470-479

Department of Neurological Surgery, University of Southern California Keck School of Medicine, Los Angeles, California.

Background: Rathke cleft cysts (RCCs) are benign sellar and suprasellar lesions commonly presenting as asymptomatic incidental findings. Rarely, RCCs hemorrhage and mimic pituitary apoplexy on presentation.

Objective: To review a series of hemorrhagic RCCs for physicians encountering this rare presentation. Read More

Eur J Endocrinol 2019 Nov;181(5):R199-R209

Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France.

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It is heterogeneous regarding clinical, biological and radiological presentation and is characterized by the following triad: thin (<1 mm) or interrupted pituitary stalk connecting the hypothalamus to the pituitary gland, no eutopic posterior lobe, and hypoplasia or aplasia of the anterior lobe. Read More

BMJ Case Rep 2019 Aug 21;12(8). Epub 2019 Aug 21.

Jacobi Medical Center, Internal Medicine, Bronx, New York, USA.

A 56-year-old woman with a history of hypothyroidism and chronic constipation presented with an acute abdomen due to colonic pseudo-obstruction. Thyroid function tests were consistent with central hypothyroidism prompting intravenous administration of stress-dose glucocorticoids and levothyroxine. The patient then underwent emergency exploratory laparotomy with sigmoid resection and end-colostomy. Read More

Indian J Tuberc 2019 Jul 2;66(3):427-429. Epub 2018 Aug 2.

Department of Medicine, King George's Medical University, Lucknow, India.

Pituitary gland involvement is a very rare entity of central nervous system tuberculosis. Tubercular meningitis (TBM) is a chronic meningitis on hypothalamic-pituitary axis which causes high morbidity and mortality hence it is the most dreaded form of extra pulmonary tuberculosis. Here we report a case of 24 year old female presenting with three months history of fever and headache along with altered sensorium since four days. Read More

World Neurosurg 2019 Dec 6;132:e841-e851. Epub 2019 Aug 6.

Department of Neurosurgery, the First Affiliated Hospital of Nanchang University, Nanchang, China. Electronic address:

Objective: To analyze the preservation of hypothalamic function using the endoscopic endonasal approach (EEA) in a single-center clinical series of patients with hypothalamus-invaded craniopharyngioma (CP) and compare this series with reported cases by the open transcranial approach (TCA).

Methods: A retrospective review of hypothalamus-invaded CP surgical cases treated with EEA was performed. Hypothalamic damage was evaluated in terms of the body mass index (BMI), endocrine status, and quality of life before and after surgery. Read More

Pak J Med Sci 2019 Jul-Aug;35(4):1149-1154

Dr. Najmul Islam, FRCP. Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.

Objective: Data regarding the etiology, clinical and biochemical patterns in hypopituitarism is scant for Pakistan. We describe the characteristics of patients with hypopituitarism other than sellar and parasellar tumors or traumatic brain injury from a tertiary care center in Pakistan.

Methods: We conducted a retrospective descriptive study in the Aga Khan University Hospital, Karachi, Pakistan. Read More

Endocrinol Metab Clin North Am 2019 09 18;48(3):583-603. Epub 2019 Jun 18.

Assistance Publique-Hôpitaux de Paris (P.C.), Hôpitaux Universitaires Paris-Sud, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares de l'Hypophyse, 78 rue du Général Leclerc, Le Kremlin-Bicêtre F-94275, France; UMR S-1185, Fac Med Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre F-94276, France. Electronic address:

Diagnosis of lymphocytic hypophysitis occurring in the peripartum period is based on clinical and neuroradiological data and does not require a biopsy. Its course is generally spontaneously favorable in terms of mass effect but may require the administration of corticosteroids or even transsphenoidal resection. The course of pituitary deficiencies is highly variable; some cases recover over time, whereas others persist indefinitely. Read More

J Pediatr Endocrinol Metab 2019 Sep;32(9):1039-1042

Division of Pediatric Endocrinology, University of Mississippi Medical Center, 2500 N State Street, Jackson, MS-39216, USA.

Background Neurosarcoidosis is not a common entity from an endocrinology standpoint. Prompt diagnosis is essential in order to determine appropriate treatment and to establish prognosis. Case presentation Our case illustrates the difficulties encountered in making a diagnosis of sarcoidosis in an adolescent who presented with polyuria, polydipsia and hypernatremia. Read More

J Assoc Physicians India 2018 Jul;66(7):92-93

Senior Resident, Department of Endocrinology, Superspeciality Hospital & Government Medical College Nagpur, Maharashtra.

Background: Panhypopituitarism due to compression of pituitary gland by internal carotid artery branch aneurysm is extremely rare.

Case Presentation: A 70 year old male presented with history of fall and altered sensorium. Investigations revealed hyponatremia , hypopituitarism and sellar mass. Read More

Zhongguo Dang Dai Er Ke Za Zhi 2019 Jul;21(7):685-689

Department of Pediatrics, Second Xiangya Hospital, Central South University, Changsha 410011, China.

This paper reports the clinical and genetic characteristics of a case of combined pituitary hormone deficiency type I (CPHD1) caused by POU domain, class 1, transcription factor 1 (POU1F1) gene variation. A 2 years and 3 months old girl mainly presented with short stature, special facial features of prominent forehead, enophthalmos, and short mandible, loose skin, central hypothyroidism, complete growth hormone deficiency, and anterior pituitary hypoplasia. Gene analysis identified a novel heterozygous mutation, c. Read More

Neuroendocrinology 2020 4;110(5):422-429. Epub 2019 Jul 4.

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

Germinomas are highly immunogenic tumors eliciting a strong peri-tumoral immune response that can spillover into the surrounding healthy tissues. This phenomenon can also occur in intracranial germinomas, manifesting as secondary hypophysitis. Herein, we report a case of 12-year-old-girl presenting with polyuria and polydispsia. Read More

No Shinkei Geka 2019 Jun;47(6):637-645

Department of Neurosurgery, Fukuoka University Chikushi Hospital.

Purpose: We describe a surgical case of aseptic meningitis and secondary hypophysitis due to rupture of a Rathke's cleft cyst(RCC)and report on literature considerations.

Case: A 36-year-old woman with a past history of menstrual irregularity who had been taking a low-dose contraceptive for five years visited our hospital. She had discomfort in her right eye four years earlier. Read More

World J Clin Cases 2019 May;7(10):1177-1183

Department of Endocrinology, Zhejiang University School of Medicine Sir Run Run Shaw Hospital, Hangzhou 310016, Zhejiang Province, China.

Background: Small cell lung cancer (SCLC) accounts for 15% of lung cancers, and it commonly expresses peptide and protein factors that are active as hormones. These secreting factors manifest as paraneoplastic disorders, such as ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS). The clinical features are abnormalities in carbohydrate metabolism, hypokalemia, peripheral edema, proximal myopathy, hypertension, hyperpigmentation, and severe systemic infection. Read More

Am J Med Genet A 2019 08 23;179(8):1591-1597. Epub 2019 May 23.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autonóma de Madrid, Madrid, Spain.

Despite BMP4 signaling being critical to Rathke's pouch induction and maintenance during early stages of pituitary development, its implication in the etiology of combined pituitary hormone deficiency (CPHD) and other clinical presentations of congenital hypopituitarism has not yet been definitely demonstrated. We report here the first CPHD patient with a de novo pathogenic loss-of-function variant in BMP4. A 6-year-old boy, with macrocephaly, myopia/astigmatism, mild psychomotor retardation, anterior pituitary hypoplasia and ectopic posterior pituitary, clinically diagnosed with growth hormone deficiency, and central hypothyroidism, was referred for genetic analysis of CPHD. Read More

World Neurosurg 2019 02 25;122:e436-e442. Epub 2018 Oct 25.

Endocrinology and Clinical Nutrition Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Seville (IBIS), Seville, Spain. Electronic address:

Objective: Cushing disease (CD) is a rare, poorly understood entity. Our aim was to add our clinical experience of >30 years in a multidisciplinary specialized unit to the global knowledge of CD.

Methods: This descriptive retrospective study included all patients admitted to the Endocrinology and Nutrition Department of the Virgen del Rocío University Hospital, Seville, Spain, from January 1980 to May 2016. Read More

Endocrine 2019 08 15;65(2):379-385. Epub 2019 May 15.

Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000, Ljubljana, Slovenia.

Purpose: Among genetic causes of combined pituitary hormone deficiency (CPHD), mutations of genes coding for transcription factors involved in pituitary development have been implicated. Congenital CPHD is a rare disease; therefore, it is important to expand the knowledge about incidence and regional distribution of specific mutations. The aim of this paper is to report results of genetic analyses of adult Slovenian patients with CPHD. Read More

Arch Endocrinol Metab 2019 May;63(2):167-174

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.

The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PROP1 mutations followed at the Hospital das Clínicas of the University of Sao Paulo. In addition to deficiencies in GH, TSH, PRL and gonadotropins some patients develop late ACTH deficiency. Read More

Horm Metab Res 2019 Apr 25;51(4):248-255. Epub 2019 Apr 25.

Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

The objective of the study is the functional characterization of a novel c.605delC mutation in combined pituitary hormone deficiency (CPHD) and to report the clinical and genetic details of 160 growth hormone deficiency patients. Screening of , , , , and genes by Sanger sequencing was carried out in 160 trios and 100 controls followed by characterization of the c. Read More

Horm Res Paediatr 2019 25;92(2):133-142. Epub 2019 Apr 25.

Explorations Fonctionnelles et génétique endocriniennes, Hôpital Armand-Trousseau, AP-HP, Paris, France,

Background: The paradox of normal growth despite a lack of growth hormone (GH) is an unexplained phenomenon described in some pathological (sellar, suprasellar, and hypothalamic disorders) and overgrowth syndromes. It has been suggested that the paradoxical growth is due to other GH variants, GH-like moieties, prolactin, insulin, insulin-like growth factors (IGFs), and unidentified serum factors or growth mechanisms. The objective of this study was to determine the mechanism underlying this normal growth without GH. Read More

World J Gastroenterol 2019 Apr;25(14):1741-1752

Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission of the People's Republic of China, The Translational Medicine Center of Peking Union Medical College Hospital, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Background: Patients with hypothalamic-pituitary disease have the feature of central obesity, insulin resistance, and dyslipidemia, and there is increased prevalence of liver dysfunction consistent with non-alcoholic fatty liver disease (NAFLD) in this population. The causes of hypopituitarism in the reported studies varied and combined pituitary hormone deficiency including central diabetes insipidus is much common in this population. This retrospective cross-sectional study was performed to analyze the clinical characteristics and related factors with NAFLD and cirrhosis in Chinese adult hypopituitary/panhypopituitary patients. Read More

Int J Mol Sci 2019 Apr 16;20(8). Epub 2019 Apr 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy.

Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). CPHD is a disorder characterized by impaired production of two or more anterior and/or posterior pituitary hormones. Read More

Childs Nerv Syst 2019 07 30;35(7):1165-1171. Epub 2019 Mar 30.

Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Taft Avenue, Ermita, 1000, Manila, Philippines.

Purpose: Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established.

Methods: We reported two cases of hydranencephaly complicated by CDI. Read More

Virchows Arch 2019 Sep 25;475(3):373-381. Epub 2019 Mar 25.

Service of Clinical Pathology, Institute of Pathology, Lausanne University Hospital, Lausanne, Switzerland.

IgG4-related hypophysitis (IgG4-RH) is a rare disease, which can occur singularly or as manifestation of a systemic IgG4-related disease (IgG4-RD). Less than one hundred cases have been reported in the literature, very few of which were histopathologically documented. We analyzed the clinical, radiological, and histopathological features of two cases of IgG4-RH, the former observed in a 66-year-old man in the context of an IgG4-RD, and the latter affecting a 21-year-old woman, as an isolated lesion. Read More

J Clin Endocrinol Metab 2019 07;104(7):2851-2854

CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal.

Context: Mutations in the HESX1 gene can give rise to complex phenotypes that involve variable pituitary hormone deficiencies and other developmental defects.

Case Description: A 14-year-old boy presented with short stature and delayed puberty and received a diagnosis of GH deficiency, central hypothyroidism, hypogonadotropic hypogonadism, and secondary adrenal insufficiency. He had anterior pituitary hypoplasia, ectopic posterior pituitary, and an interrupted pituitary stalk. Read More

Am J Med Genet A 2019 05 17;179(5):827-831. Epub 2019 Feb 17.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, ataxia, combined pituitary hormone deficiency, associated with mitochondrial impairment. Targeted clinical exome sequencing led to the identification of a homozygous missense variant in OTX2. Since only dominant mutations within OTX2 have been associated with cases of syndromic microphthalmia, retinal dystrophy with or without pituitary dysfunctions, this represents the first report of an OTX2 recessive mutation. Read More

BMJ Case Rep 2019 Feb 13;12(2). Epub 2019 Feb 13.

Department of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

Osteonecrosis, also known as avascular necrosis, is a condition that causes significant morbidity and loss of function. It is a common complication seen with supraphysiological steroid use. Early diagnosis is critical as it impacts prognosis. Read More