scholarly journals SUN-287 A Case of Ectopic Neurohypophysis

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
kehinde Matilda folawewo ◽  
MaKenzie Hodge ◽  
Nada Osman ◽  
Anteneh Woldetensay Zenebe ◽  
Vijaya A Ganta ◽  
...  
Keyword(s):  
Pituitary Gland ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Breast Development ◽  
Pituitary Hormone ◽  
Thyroid Function Tests ◽  
Mineral Density ◽  
Dxa Scan ◽  
Ectopic Neurohypophysis

Abstract Pituitary stalk interruption syndrome (PSIS) is a congenital disorder of the pituitary gland. Symptoms at presentation may vary widely as this disease presents along a spectrum which includes; ectopic posterior pituitary, interrupted pituitary stalk or aplasia and hypoplasia of the pituitary gland. It is a heterogeneous disorder in terms of radiologic and clinical presentation. It can present clinically as an isolated pituitary hormone deficiency (most common being growth hormone deficiency) or as multihormonal deficiencies. CASE PRESENTATION Patient is a 34-year-old woman with history of primary amenorrhea who was evaluated by a gynecologist and was prescribed oral contraceptive pills which lead to her having a menstrual bleed for the first time in her life. She denied any difficulty with smell. She had undergone normal psychomotor milestones and highest level of education was high school. She had normal puberty with normal pubic and axillary hair growth, normal breast development but no menarche. Of note, patient has a short stature, height is 4 feet and 11 inches, and her biological parents are of normal adult height On evaluation, patient had normal am cortisol, prolactin and thyroid function tests. IGF-1 was significantly low for her age, FSH and LH were inappropriately low for her low estradiol level suggesting hypogonadotropic hypogonadism. Patient subsequently had an MRI of the pituitary and DXA scan. MRI findings were suggestive of ectopic neurohypophysis. DXA scan showed significant reduction in bone mineral density for age. Patient is currently being treated with hormonal replacement which is the main modality of treatment for ectopic neurohyphysis. She will need long term follow up as disease progression to pan-hypopituitarism is common. CONCLUSION PSIS is a rare syndrome with different phenotypic presentation depending on when the diagnosis is made; therefore, adequate follow up is indicated as the disease can progress from a single hormonal deficiency to pan-hypopituitarism.

scholarly journals Pituitary Morphology and Function in 43 Children with Central Diabetes Insipidus

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Wendong Liu ◽  
Limin Wang ◽  
Minghua Liu ◽  
Guimei Li
Keyword(s):  
Diabetes Insipidus ◽  
Central Diabetes Insipidus ◽  
Pituitary Function ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Initial Manifestation ◽  
Stalk Diameter ◽  
And Function

Objective. In pediatric central diabetes insipidus (CDI), etiology diagnosis and pituitary function monitoring are usually delayed. This study aimed to illustrate the importance of regular follow-up and pituitary function monitoring in pediatric CDI.Methods. The clinical, hormonal, and neuroradiological characteristics of children with CDI at diagnosis and during 1.5–2-year follow-up were collected and analyzed.Results. The study included 43 CDI patients. The mean interval between initial manifestation and diagnosis was 22.29 ± 3.67 months (range: 2–108 months). The most common complaint was polyuria/polydipsia. Causes included Langerhans cell histiocytosis, germinoma, and craniopharyngioma in 2, 5, and 4 patients; the remaining were idiopathic. No significant changes were found during the 1.5–2 years after CDI diagnosis. Twenty-three of the 43 cases (53.5%) had ≥1 anterior pituitary hormone deficiency. Isolated growth hormone deficiency was the most frequent abnormality (37.5%) and was not associated with pituitary stalk diameter. Multiple pituitary hormone deficiencies were found in 8 cases with pituitary stalk diameter > 4.5 mm.Conclusion. Diagnosis of CDI is usually delayed. CDI with a pituitary stalk diameter > 4.5 mm carries a higher risk of multiple pituitary hormone deficiencies. Long-term MRI and pituitary function follow-ups are necessary for children with idiopathic CDI.

scholarly journals SAT-241 Pituitary Stalk Interruption Syndrome Presenting as Neonatal Hypotonia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Nordie Anne Bilbao
Keyword(s):  
Pituitary Gland ◽  
Neonatal Period ◽  
Hormone Replacement ◽  
Brain Mri ◽  
Rare Condition ◽  
Pituitary Stalk ◽  
Pituitary Hormone ◽  
Thyroid Function Tests ◽  
Acth Stimulation ◽  
Central Hypothyroidism

Abstract Pituitary stalk interruption syndrome (PSIS) is a rare condition that include congenital anatomic abnormalities of the pituitary gland and hypopituitarism. There is a wide variety of clinical presentation, with the age at presentation encompassing from neonatal period to adulthood and including one or more pituitary hormone deficiencies. In recent literature there is increasing recognition of PSIS presenting in the neonatal period, mostly involving hypoglycemia. Our patient is a full-term male infant who presented in the newborn period with hypotonia and hypothermia. He also had hypoglycemia, which was initially thought to be associated to hyperinsulinism in the context of gestational diabetes. Micropenis was noted on physical exam. As part of the study for hypotonia, serial thyroid function tests were obtained revealing central hypothyroidism. A low dose ACTH stimulation test was performed which revealed adrenal insufficiency. The patient was started on cortisol and thyroid hormone replacement. Brain MRI showed an ectopic neurohypophysis located along the floor of the hypothalamus, a small anterior pituitary gland, and a partially absent infundibulum, findings consistent with pituitary stalk interruption syndrome. The patient received testosterone injections for micropenis and is being followed for development of other pituitary hormone deficiencies. PSIS is a rare congenital condition that is increasingly recognized in neonates manifesting with signs of hypopituitarism.

scholarly journals Growth Hormone Deficiency in Children and Adult Patients with Hypopituitarism: Challenges in the Diagnosis and Management

2017 ◽  
Vol 1 (1) ◽  
pp. 01-04
Author(s):  
Mansour Hosseinlou
Keyword(s):  
Growth Hormone ◽  
Pituitary Gland ◽  
Growth Hormone Deficiency ◽  
Medical Condition ◽  
Pituitary Hormones ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Diagnosis And Management ◽  
Treatment Regimens

Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.If there is decreased secretion of one specific pituitary hormone, the condition is known as selective hypopituitarism. If there is decreased secretion of most or all pituitary hormones, the term panhypopituitarism is used. Hypopituitarism is a complex medical condition associated with increased morbidity and mortality, requires complicated treatment regimens, and necessitates lifelong follow up by the endocrinologist.

scholarly journals SAT-067 Maternal Transmission of Pituitary Stalk Interruption Syndrome(PSIS)

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Snigdha Reddy Likki ◽  
Holley F Allen ◽  
Chelsea Gordner
Keyword(s):  
Pituitary Gland ◽  
Adrenal Insufficiency ◽  
Anterior Pituitary ◽  
Hormone Replacement ◽  
Growth Failure ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Z Score ◽  
Central Hypothyroidism

Abstract BACKGROUND: Pituitary stalk interruption syndrome (PSIS) is a rare entity characterized by thin or absent pituitary stalk, hypoplastic/aplastic anterior pituitary and ectopic posterior pituitary (EPP) on magnetic resonance imaging (MRI). PSIS can be associated with variable degrees of pituitary insufficiency 1. Most cases of combined pituitary hormone deficiency are sporadic, however in familial cases, there can be AD or AR inheritance with more than 30 genes identified in association with combined pituitary hormone deficiency (CPHD). We describe how diagnosis of 2 children with PSIS led to the discovery of the condition in their mother. Clinical Case: Child 1 presented at age 3yrs with growth failure in 2003 with ht z score -4.24 SD. Subsequent work up revealed low IGF-1 (< 25 ng /mL) and MRI showed EPP, small anterior pituitary gland and absent pituitary stalk. No GH stim test was performed. He was started on GH supplementation and later was diagnosed with central hypothyroidism, central adrenal insufficiency and hypogonadotropic hypogonadism and is doing well on multiple hormone replacement at age 19 yrs. Child 2, a half-brother to child 1 (same mother), presented at age 1yr with growth failure in 2017 with ht z score -2.06. GH stimulation test with glucagon was abnormal and resulted in a very low GH response (peak GH 0.52 ng/mL). MRI showed EPP with small anterior pituitary gland and interruption of the stalk. Later he was found to have central hypothyroidism and mild central adrenal insufficiency. He is receiving standard hormone replacement at 3 yrs of age. Mother of above 2 patients presented 6 mos postpartum in 2017 after her 7th and last pregnancy with fatigue and amenorrhea. Laboratory evaluation revealed central hypothyroidism (FT4 0.76 ng/dL) and she was prescribed levothyroxine followed by resumption of her menses. She was unable to breastfeed her children due to lack of supply. There were no concerns for DI, amenorrhea or infertility. She was referred to Endocrinology in 2019 for persistent fatigue with a question of GH deficiency. IGF-1 level was normal 114 ng/mL(z score -0.39) and GH stimulation test (clonidine + glucagon) was abnormal with peak GH 1.85 ng/ml. MRI showed EPP with hypoplastic pituitary stalk. Genetic testing was done for CPHD Sequencing Panel at Prevention Genetics which includes GL12, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1F1, PROP1, SOX2, SOX3 genes and results were negative. She has 4 other children (21, 12, 11, 10yrs) who are currently being investigated for hormone deficiencies. One child died at 3 months of age due to SIDS. Conclusion: We present 3 family members with PSIS. This family highlights the variable clinical phenotype of PSIS and importance of careful family history when evaluating children with congenital pituitary abnormalities and supports the need for more extensive gene panels for evaluation of CPHD. Reference:. Acta Endocrinologica, 2017. 13(1):96–105

Neoplastic Etiology and Natural Course of Pituitary Stalk Thickening: A Systematic Review and Meta-analysis

2021 ◽  
Author(s):  
Dong Yeong Kim ◽  
Pyeong Hwa Kim ◽  
Ah Young Jung ◽  
Jin-Ho Choi ◽  
Young Ah Cho ◽  
...  
Keyword(s):  
Meta Analysis ◽  
Natural Course ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Original Research ◽  
Pituitary Hormone ◽  
Pediatric Populations ◽  
The Difference ◽  
Pituitary Stalk Thickening

Abstract Context Pituitary stalk thickening (PST) is often identified on magnetic resonance imaging (MRI), either incidentally or during diagnostic work-up of hypopituitarism. However, the neoplastic etiology and natural course of PST are not fully understood, although this knowledge is required to establish diagnostic and surveillance strategies. Objectives To investigate the neoplastic etiology and natural course of PST. Methods MEDLINE/PubMed and EMBASE databases were searched up to February 2021 to identify original research investigating the etiologies of PST. The proportion of neoplastic etiology in patients with PST was meta-analytically pooled. Supplementary analysis exploring factors suggesting neoplasm was also performed. For initially indeterminate cases without confirmed diagnosis, the proportion of patients showing progression of PST during follow-up was evaluated. Results Eighteen studies covering 1368 patients with PST were included. The pooled proportion of neoplasm was 45.2% (95% CI, 33.3–57.8%), with substantial heterogeneity across studies (I 2=93%). The most common neoplasm was germ cell tumor (14.0% of study population), followed by Langerhans cell histiocytosis (10.2%) and metastasis (4.7%). The studies on pediatric populations and those with >50% of patients having at least one pituitary hormone deficiency tended to show a higher proportion of neoplasm. The pituitary stalk was thicker in neoplasms, but the difference was not significant (pooled mean difference, 2.08 mm; P=0.08). In initially indeterminate cases, 18.5% (95% CI, 7.6–38.3%) showed progression of PST during follow-up. Conclusion PST was commonly confirmed to be neoplastic, especially in pediatric populations. As isolated PST frequently progresses, follow-up imaging is essential in initially indeterminate cases.

scholarly journals SIX3 Variant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A530-A530
Author(s):  
Hironori Bando ◽  
Michelle Brinkmeier ◽  
Peter Gergics ◽  
Qing Fang ◽  
Amanda Helen Mortensen ◽  
...  
Keyword(s):  
Pituitary Gland ◽  
Genetic Interaction ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Beta Catenin ◽  
Loss Of Function ◽  
Rathke’S Pouch ◽  
Pituitary Development ◽  
Rathke's Pouch

Abstract The genetic basis for congenital hypopituitarism and related disorders is beginning to emerge, and over 30 causal genes have been identified. Mutations in some of these genes can also cause holoprosencephaly (HPE) or septo-optic dysplasia. SIX3 is a homeodomain protein expressed in the developing brain, pituitary gland, and eye. Heterozygous mutations in SIX3 cause variable HPE in humans and mice. We identified two children with neonatal GH and TSH deficiency and stalk interruption who were doubly heterozygous for rare, likely deleterious variants in SIX3 and POU1F1. Functional studies demonstrated that both variants are disruptive. We used Six3 and Pou1f1 loss of function mice to assess the genetic interaction between Six3 and Pou1f1. Six3 heterozygotes have variable pituitary gland dysmorphology, while Pou1f1 heterozygotes are normal. A significant portion of the Six3+/-; Pou1f1+/dw doubly heterozygous mice have a more pronounced pituitary phenotype than Six3+/-, supporting the possibility of digenic pituitary disease. To understand the role of SIX3 in pituitary and hypothalamic development, we used Prop1-cre and Nkx2.1-cre to delete Six3. Disruption of Six3 expression in Rathke’s pouch caused poor activation of Lhx3 expression and arrested anterior pituitary development. The Nkx2.1-cre, Six3flox/flox embryos had no evidence of infundibulum evagination and failed to induce FGF and BMP signaling, which normally drive expansion of Rathke’s pouch. By E11.5 cells in Rathke’s pouch underwent apoptosis. The Nkx2.1-cre, Six3flox/flox embryos failed to activate expression of Lhx2 and Tbx3 in the neural ectoderm. These embryos had elevated CCND1, MYCN, and Axin2 expression in the area of the presumptive infundibulum. This indicates that SIX3 is necessary to repress cell proliferation and Wnt/beta-catenin signals to promote formation of the pituitary stalk. Thus, Six3 has essential roles in both the neural and oral ectoderm for hypothalamic and pituitary development, respectively. Heterozygous loss of function variants in SIX3 could be a contributor to multiple pituitary hormone deficiencies in children, especially if there are associated craniofacial abnormalities or PSIS.

Long-Term Outcomes of Patients with Acromegaly - A Report from the Swedish Pituitary Register

2022 ◽  
Author(s):  
Steinunn Arnardóttir ◽  
Jacob Järås ◽  
Pia Burman ◽  
Katarina Berinder ◽  
Per Dahlqvist ◽  
...  
Keyword(s):  
High Rate ◽  
Hormone Deficiency ◽  
Visual Field Defects ◽  
Mortality Data ◽  
Pituitary Hormone ◽  
Biochemical Control ◽  
Long Term Outcomes ◽  
Over Time

Objective: To describe treatment and long-term outcomes of patients with acromegaly from all health-care regions in Sweden. Design and Methods: Analysis of prospectively reported data from the Swedish Pituitary Register of 698 patients (51% females) with acromegaly diagnosed from 1991-2011. The latest clinical follow-up date was December, 2012, while mortality data were collected for 28.5 years until June, 2019. Results: The annual incidence was 3.7/million; 71% of patients had a macroadenoma, 18% had visual field defects, and 25% had at least one pituitary hormone deficiency. Eighty-two percent had pituitary surgery, 10% radiotherapy and 39% medical treatment. At the 5- and 10-year follow-ups, IGF-I levels were within the reference range in 69% and 78% of patients, respectively. In linear regression the proportion of patients with biochemical control including adjuvant therapy at 10 year follow-up increased over time with 1.23 % per year. The SMR (95% CI) for all patients was 1.29 (1.11-1.49). For patients with biochemical control at the latest follow-up, SMR was not increased, neither among patients diagnosed 1991-2000, SMR 1.06 (0.85-1.33) or 2001-2011, SMR 0.87 (0.61-1.24). In contrast, non- controlled patients at the latest follow up from both decades had elevated SMR, 1.90 (1.33-2.72) and 1.98 (1.24-3.14), respectively. Conclusions: The proportion of patients with biochemical control increased over time. Patients with biochemically controlled acromegaly have normal life expectancy while non-controlled patients still have increased mortality. The high rate of macroadenomas and unchanged age at diagnosis illustrates the need for improvements in the management of patients with acromegaly.

scholarly journals Evaluation of pituitary imaging in patients with PROP-1 gene mutation

Medicina ◽  
2009 ◽  
Vol 45 (9) ◽  
pp. 693 ◽  
Author(s):  
Natalija Tkačenko ◽  
Danutė Lašienė ◽  
Silvija Jakštienė ◽  
Algidas Basevičius ◽  
Rasa Verkauskienė
Keyword(s):  
Transcription Factor ◽  
Pituitary Gland ◽  
Gene Mutation ◽  
Anterior Pituitary ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Imaging Studies ◽  
Pituitary Hyperplasia ◽  
Pituitary Hypoplasia ◽  
Genetically Determined

The most common genetically determined cause of multiple pituitary hormone deficiency is PROP-1 gene mutation. PROP-1 is a transcription factor involved in the development of pituitary gland and affects hormonal synthesis of anterior pituitary. The aim of our study was to evaluate radiological aspects of the pituitary region in patients with PROP-1 gene mutation. Pituitary imaging studies were performed in 12 patients with a confirmed PROP-1 gene mutation. Pituitary hyperplasia was found in 5 (42%) and pituitary hypoplasia in 4 (33%) patients. Changes in pituitary size were not associated with the type of PROP-1 gene mutation.

scholarly journals Bone Density Screening in Postmenopausal Women With Early-Stage Breast Cancer Treated With Aromatase Inhibitors

2017 ◽  
Vol 13 (5) ◽  
pp. e505-e515 ◽  
Author(s):  
Jamie Stratton ◽  
Xin Hu ◽  
Pamela R. Soulos ◽  
Amy J. Davidoff ◽  
Lajos Pusztai ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Bone Mineral Density ◽  
Postmenopausal Women ◽  
Bone Mineral ◽  
Aromatase Inhibitors ◽  
Early Stage ◽  
Mineral Density ◽  
Dxa Scan ◽  
Bone Mineral Density Testing

Purpose: In postmenopausal women with breast cancer treated with aromatase inhibitors (AIs), most expert panels advise baseline bone mineral density testing with a dual-energy x-ray absorptiometry (DXA) scan repeated every 1 to 2 years. How often this recommendation is followed is unclear. Methods: We performed a retrospective analysis of women with stage I to III breast cancer who started AI therapy from January 1, 2008, to December 31, 2010, with follow-up through December 31, 2012, by using the SEER-Medicare database. Selection criteria included AI use for ≥ 6 months and no recent osteoporosis diagnosis or bisphosphonate use. We used multivariable logistic regression to investigate associations between patient characteristics and receipt of a baseline DXA scan. In patients who continued AI treatment, we assessed rates of follow-up scans. Results: In the sample of 2,409 patients (median age, 74 years), 51.0% received a baseline DXA scan. Demographic characteristics associated with the absence of a baseline DXA scan were older age (85 to 94 years v 67 to 69 years; odds ratio [OR], 0.62; 95% CI, 0.42 to 0.92) and black v white race (OR, 0.68; 95% CI, 0.47 to 0.97). Among patients who underwent a baseline DXA scan and continued AI for 3 years, 28.0% had a repeat DXA scan within 2 years and 65.9% within 3 years. In aggregate, of the 1,164 patients who continued with AI treatment for 3 years, only 34.5% had both a baseline and at least one DXA scan during the 3-year follow-up period. Conclusion: The majority of older Medicare beneficiaries with breast cancer treated with AIs do not undergo appropriate bone mineral density evaluation.

Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis

2016 ◽  
Vol 29 (7) ◽  
Author(s):  
Shunsuke Nakagawa ◽  
Yuichi Shinkoda ◽  
Daisuke Hazeki ◽  
Mari Imamura ◽  
Yasuhiro Okamoto ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Late Relapse ◽  
Pituitary Hormone ◽  
Anterior Pituitary Hormone ◽  
The Central Nervous System

AbstractCentral diabetes insipidus (CDI) and relapse are frequently seen in multifocal Langerhans cell histiocytosis (LCH). We present two females with multifocal LCH who developed CDI 9 and 5 years after the initial diagnosis, respectively, as a relapse limited to the pituitary stalk. Combination chemotherapy with cytarabine reduced the mass in the pituitary stalk. Although CDI did not improve, there has been no anterior pituitary hormone deficiency (APHD), neurodegenerative disease in the central nervous system (ND-CNS) or additional relapse for 2 years after therapy. It was difficult to predict the development of CDI in these cases. CDI might develop very late in patients with multifocal LCH, and therefore strict follow-up is necessary, especially with regard to symptoms of CDI such as polydipsia and polyuria. For new-onset CDI with LCH, chemotherapy with cytarabine might be useful for preventing APHD and ND-CNS.

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