BMC Pregnancy Childbirth 2017 Jun 14;17(1):188. Epub 2017 Jun 14.

Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.

Background: Sheehan's syndrome occurs because of severe postpartum hemorrhage causing ischemic pituitary necrosis. Sheehan's syndrome is a well-known condition that is generally diagnosed several years postpartum. However, acute Sheehan's syndrome is rare, and clinicians have little exposure to it. Read More

Rinsho Shinkeigaku 2017 Jun 26;57(6):298-302. Epub 2017 May 26.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University.

We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. Read More

J Assoc Physicians India 2017 Apr;65(4):85-86

Residents, RNT Medical College, Udaipur, Rajasthan.

Lymphocytic hypophysitis is an inflammatory /autoimmune disorder that primarily involves the pituitary gland and the pituitary stalk. The common clinical presentations include headache, nausea, vomiting, fatigue, features of hypopituitarism and diabetes insipidus as well as diplopia, orbital pain and bitemporal hemianopia. We report a case of lymphocytic hypophysitis which presented as hemichorea. Read More

Endocrinol Metab Clin North Am 2017 Jun 22;46(2):247-257. Epub 2017 Feb 22.

Department of Pediatrics, Child Health Institute of New Jersey, Rutgers-Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, 89 French Street, Room 4212, New Brunswick, NJ 08901, USA.

This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POU1F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well described in the literature in terms of clinical characterization of affected patients and molecular mechanisms of action, and therefore, are very relevant to clinical practice. Read More

Endocrinol Diabetes Metab Case Rep 2017 23;2017. Epub 2017 Mar 23.

RCSIBusaiteenBahrain.

Summary: Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics. Read More

Medicine (Baltimore) 2017 Apr;96(17):e6757

aDivision of Gastroenterology and Nutrition, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan bMacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan cDivision of Endocrinology and Metabolism, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan dDivision of Neurology, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan eDivision of Hematology-Oncology, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan fMacKay Medical College, Taipei, Taiwan.

Rationale: Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign. Read More

Yonsei Med J 2017 May;58(3):527-532

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Purpose: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD). Read More

F1000Res 2017 22;6:178. Epub 2017 Feb 22.

Max Planck Institute of Psychiatry, Clinical Neuroendocrinology, Kraepelinstr. 2-10, D-80804 Munich, Germany.

The understanding of hypopituitarism has increased over the last three years. This review provides an overview of the most important recent findings. Most of the recent research in hypopituitarism has focused on genetics. Read More

Medicine (Baltimore) 2017 Mar;96(9):e6034

aDepartment of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, Japan bDepartment of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, Japan. cDepartment of Neurosurgery, Graduate School of Medicine, Kyoto University, Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, Japan.

Rationale: Lymphocytic hypophysitis is a relatively rare autoimmune disease defined by lymphocytic infiltration to the pituitary. Its rarity and wide spectrum of clinical manifestations make clarification of the pathology difficult. Here, we describe a case we examined from the primary diagnosis to final discharge, showing the serial progression of lymphocytic infundibuloneurohypophysitis (LINH) to panhypopituitarism with extrapituitary inflammatory invasion in a short period, and responding favorably to high-dose glucocorticoid treatment. Read More

J Med Case Rep 2017 Feb 5;11(1):31. Epub 2017 Feb 5.

University Medical Unit, National Hospital of Sri Lanka, Colombo 10, Sri Lanka.

Background: Craniopharyngiomas are rare intracranial tumors commonly presenting with neurological symptoms. Reports of severe hyponatremia as a presenting manifestation of a craniopharyngioma and hyponatremia-induced myopathy are rare. We report the case of a patient with craniopharyngioma presenting with severe hyponatremia, panhypopituitarism, and hyponatremia-induced myopathy. Read More

BMJ Case Rep 2017 Feb 1;2017. Epub 2017 Feb 1.

Department of Medical Oncology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.

Pembrolizumab is an approved first-line systemic therapy for unresectable metastatic melanoma. Despite the achievement of complete and durable responses in a small subgroup of patients, it is standard practice that pembrolizumab therapy continues beyond complete response. Nevertheless, the incidence of immune-related toxicities gradually increases with continuing pembrolizumab therapy. Read More

Endokrynol Pol 2016 ;67(6):622-626

Department of Endocrinology, B.Y.L Nair Charitable Hospital & Topiwala National Medical College, Mumbai-400008, India.

Introduction: We present a case of Mikulicz's Disease with hypophysitis. This is a rare clinical association as part of the group of IgG4- related diseases, a group of disorders which can have multiorgan involvement.

Methods: A 55-year-old male patient was diagnosed with Mikulicz's disease. Read More

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

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

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

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

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

Pituitary 2017 Jun;20(3):325-332

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

J Clin Endocrinol Metab 2017 Jan;102(1):290-301

INSERM, Unité Mixte de Recherche S933, F-75012, Paris, France.

Context: LHX4 encodes a LIM-homeodomain transcription factor that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism.

Objective: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the associated phenotypes, and to characterize the functional impact of the identified variants and the respective role of the 2 LIM domains of LHX4. Read More

Pituitary 2017 Apr;20(2):282-291

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

Br J Neurosurg 2016 Dec 22;30(6):637-642. Epub 2016 Jun 22.

b Department of Neurosurgery , Rush University Medical Center , Chicago , IL , USA.

Introduction: The transsphenoidal endoscopic approach is a relatively new procedure compared to the microscopic approach in pituitary adenoma resection. The endoscopic approach has shown to significantly decrease the rate of complications, time in the operating room and hospital, and patient post-op discomfort. However, this procedure requires the surgeon to make use of different visual and tactile clues that must be developed with experience. Read More

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

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

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

Pediatr Transplant 2016 Dec 20;20(8):1157-1163. Epub 2016 Oct 20.

Department of Surgery, Yale University School of Medicine, New Haven, CT, USA.

NAFLD is a common condition linked to obesity, type 2 diabetes, and metabolic syndrome. Simple hepatic steatosis is a risk factor for inflammatory reactions in the liver (NASH), which may lead to cirrhosis. While the mechanism is unclear, NAFLD and NASH are associated with panhypopituitarism, which in the pediatric population often results from craniopharyngioma or pituitary adenoma and the sequelae of treatment, causing hypothyroidism, adrenal insufficiency, hypogonadotropic hypogonadism, and GH deficiency. Read More

Horm Metab Res 2016 Dec 18;48(12):822-827. Epub 2016 Oct 18.

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

Growth hormone deficiency (GHD) results from variations affecting the production and release of growth hormone (GH) and is of 2 types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). IGHD results from mutations in GH1 and GHRHR while CPHD is associated with defects in transcription factor genes PROP1, POU1F1, and HESX1. The present study reports on screening of POU1F1, PROP1, and HESX1 in CPHD patients and the novel variations identified. Read More

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

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

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

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

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

J Clin Neurosci 2016 Sep 2;31:192-5. Epub 2016 Apr 2.

Department of Diagnostic Radiology, Yale School of Medicine, Box 208042, Tompkins East 2, 333 Cedar Street, New Haven, CT 06520-8042, USA. Electronic address:

Intracranial ectopic germinomas are often associated with synchronous midline disease. Germinomas involving the corpus callosum are exceedingly rare. The reported imaging appearance is not as varied as one might expect and a review of the literature reveals a few common imaging features amongst most ectopic lesions, including cyst formation. Read More

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

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

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

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

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

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

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

J Endocrinol Invest 2016 Jul 16;39(7):805-6. Epub 2016 Feb 16.

Division of Endocrinology and Diabetology, Department of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy.

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

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

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

Endocr J 2016 Apr 15;63(4):405-10. Epub 2016 Jan 15.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Heterozygous and/or homozygous HESX1 mutations have been reported to cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), in association with septo optic dysplasia (SOD). We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes. The propositus was a one-year-old Japanese girl. Read More

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

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

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

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

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

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