Pituitary Hypoplasia: Causes & Reasons

Possible Causes for Pituitary Hypoplasia

Findings: (1) bilateral optic nerve hypoplasia (2) partial or complete agenesis of the septum pellucidum (3) variable defect in the pituitary (4) variable defect in other [meducator3.net]

As our patient showed optic nerve hypoplasia and pituitary dysfunction, a diagnosis of SOD was settled. [omicsonline.org]

Tajima T, Hattorri T, Nakajima T, et al.: Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency [link.springer.com]

Septo-Optic Dysplasia

These results demonstrate that some sporadic cases of the more common mild forms of pituitary hypoplasia have a genetic basis, resulting from heterozygous mutation of the [ncbi.nlm.nih.gov]

[…] absence of septum pellucidum or corpus callosum and pituitary hypoplasia. [mjdrdypu.org]

[…] formation of structures along the midline of the brain, and pituitary hypoplasia. [ghr.nlm.nih.gov]

Growth Hormone Deficiency

Magnetic resonance imaging scan of the pituitary gland showed anterior pituitary hypoplasia in five affected individuals in which the youngest was only 0.4 years old, but [ncbi.nlm.nih.gov]

Thus, what was called neurosecretory GHD in the past, might, in some patients, be relative pituitary hypoplasia and resultant diminished growth hormone secretion. [ncbi.nlm.nih.gov]

Anterior pituitary hypoplasia, combined with posterior pituitary ectopy and pituitary stalk invisibility on MRI, was an exclusive finding in MPHD patients. [ncbi.nlm.nih.gov]

Drug-Induced Pituitary Deficiency

hypoplasia or aplasia. [patient.info]

Forms of combined pituitary hormone deficiency ("CPHD") include: Type OMIM Gene CPHD1 613038 POU1F1 CPHD2 262600 PROP1 CPHD3 600577 LHX3 CPHD4 602146 LHX4 CPHD5 ( Septo-optic [en.wikipedia.org]

Presentation Presentation varies from asymptomatic to acute pituitary failure with acute collapse and coma, depending on the aetiology, rapidity of onset, and predominant [patient.info]

Woodhouse-Sakati Syndrome

Other MRI changes include pituitary hypoplasia, which was seen in 69% of patients, of note, sparing neurohypophysis. [n.neurology.org]

Relative pituitary hypoplasia also noted (Fig 3). [eurorad.org]

The results indicated pituitary hypoplasia with white matter changes suggestive of WSS. [smj.org.sa]

Pituitary Dwarfism

Pituitary hypoplasia was present in all Group IV individuals and in 5/8 of Group III patients. [scielo.br]

A case of a 14-year-old boy with optic hypoplasia and pituitary dwarfism was presented. [ncbi.nlm.nih.gov]

It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). [ghr.nlm.nih.gov]

Congenital Mydriasis

abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated [pid.ics.jccm.es]

hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis. [pubmed.ncbi.nlm.nih.gov]

[…] plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary [pid.ics.jccm.es]

Combined Pituitary Hormone Deficiency Type 1

(somatolactotroph and thyrotroph deficiencies, pituitary hypoplasia), HESX1 (variable pituitary deficiencies, septo-optic dysplasia), and less frequently LHX3 (somatolactotroph [orpha.net]

On patient #1, MRI showed pituitary hypoplasia. [elsevier.pt]

Sagittal MRI scan of the patient with SOX3 duplica- tion, showing pituitary hypoplasia, hypoplasia of the infundibu- lum, and an undescended/ectopic posterior pituitary. [hormones.gr]

Combined Pituitary Hormone Deficiency 6

(somatolactotroph and thyrotroph deficiencies, pituitary hypoplasia), HESX1 (variable pituitary deficiencies, septo-optic dysplasia), and less frequently LHX3 (somatolactotroph [orpha.net]

A final diagnosis of familial IGHD with associated pituitary hypoplasia was made. [embomolmed.embopress.org]

Tajima T et al. (2007) A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior [moldiag.com]

SALL4-Related Disorders

hypoplasia at each visit. [pubmed.ncbi.nlm.nih.gov]

hypoplasia per endocrinologist. [pubmed.ncbi.nlm.nih.gov]

[…] and antibiotic prophylaxis for bacterial endocarditis; hearing aids as needed; consideration of growth hormone therapy for children with growth deficiency; treatment of pituitary [pubmed.ncbi.nlm.nih.gov]

X-Linked Intellectual Disability with Panhypopituitarism

Sagittal MRI scan of the patient with SOX3 duplica- tion, showing pituitary hypoplasia, hypoplasia of the infundibu- lum, and an undescended/ectopic posterior pituitary. [hormones.gr]

Brain MRI in some affected males showed anterior pituitary hypoplasia, ectopic posterior pituitary, and absent infundibulum. [egl-eurofins.com]

Disease description Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. [uniprot.org]

Chromosome 22q13 Duplication Syndrome

hypoplasia seen in one patient with a large duplication, and several other genes without clear relation to disease. [ncbi.nlm.nih.gov]

[…] the gene EP300, mutations and deletions of which are implicated in Rubinstein-Taybi syndrome and thyrotroph embryonic factor, which has been proposed to be related to the pituitary [ncbi.nlm.nih.gov]

Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

hypoplasia and hypogonadotropic hypogonadism. [orpha.net]

Abnormality of the nervous system Anterior pituitary hypoplasia Corpus callosum, agenesis of Global developmental delay Hamartoma of hypothalamus Hypoplasia of the corpus [ncbi.nlm.nih.gov]

hypoplasia Underdeveloped pituitary gland 0010627 Autosomal dominant inheritance 0000006 Butterfly vertebrae 0003316 Coloboma Notched pupil 0000589 Frontal bossing 0002007 [rarediseases.info.nih.gov]

Panhypopituitarism

[…] individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. [malacards.org]

Definition Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. [uniprot.org]

hypoplasia Underdeveloped pituitary gland 0010627 Aplasia/Hypoplasia of the breasts Absent/small breasts Absent/underdeveloped breasts [ more ] 0010311 Decreased circulating [rarediseases.info.nih.gov]

Optic Nerve Hypoplasia

RESULTS: A total of 26 children with optic nerve hypoplasia had pituitary hormone deficiency. [ncbi.nlm.nih.gov]

We present a patient with a history of left optic nerve hypoplasia, mild hypothalamic-pituitary dysfunction, and SUNCT starting in adolescence. [ncbi.nlm.nih.gov]

Brain magnetic resonance imaging examination revealed hypoplastic anterior pituitary, ectopic posterior lobe, and left optic nerve hypoplasia. [ncbi.nlm.nih.gov]

Pituitary Stalk Section

It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. [jmedicalcasereports.biomedcentral.com]

So the term 'pituitary stalk hypoplasia or 'thin stalk syndrome' may be preferred over pituitary stalk transection syndrome. [ijri.org]

[…] and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes. ( 23476075 ) Tatsi C....Dacou-Voutetakis C. 2013 30 Pituitary stalk interruption [malacards.org]

Mayer-Rokitansky-Küster-Hauser Syndrome Type 1

Ultrasound showed bilateral thyroid hypoplasia and brain MRI suggested anterior pituitary hypoplasia. Levothyroxine and hormone replacement therapy were started. [edm.bioscientifica.com]

The association between pituitary hypoplasia and primary hypothyroidism is very rare, rather pituitary hyperplasia is seen in patients with severe primary hypothyroidism [edm.bioscientifica.com]

The hypogonadotropic hypogonadism despite gonadal dysgenesis seen in our patient can be explained by the anterior pituitary hypoplasia. [edm.bioscientifica.com]

Cytomegalic Congenital Adrenal Hypoplasia

Key words Adrenal gland hypoplasia Adrenal cytomegaly Pituitary gland hypoplasia Pituitary cytomegaly This is a preview of subscription content, log in to check access. [link.springer.com]

Such adrenal hypoplasia has also been reported in combination with maldevelopnient of the pituitary (3, 8, 14). [dokumen.tips]

Child. 94, 282 (1957) Google Scholar Mosier, H.D.: Hypoplasia of the pituitary and adrenal cortex. J. [link.springer.com]

Complex Cortical Dysplasia with other Brain Malformations Type 8

In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented [doi.org]

Absence or a marked hypoplasia of the pituitary stalk was detected incidentally on coronal images. [ajnr.org]

SOD is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. [bmcresnotes.biomedcentral.com]

Anophthalmia - Microphthalmia Syndrome

[…] of septum pellucidum. [1] Later on, an association with pituitary hypoplasia was described and septo-optic dysplasia is now often diagnosed clinically in presence of two [ojoonline.org]

hypoplasia/aplasia 3 Pituitary anomalies/dysfunction, brain abnormalities, DD, autistic features 4 600037 610125 RAX Microphthalmia, isolated 3 3% AR Sclerocornea DD 601881 [ncbi.nlm.nih.gov]

hypoplasia, horseshoe kidney, and male (and possibly female) genital abnormalities [ 5, 6, 10, 20 – 22 ]. [molvis.org]

Hypopituitarism

POU1F1 (Pit-1; Gene ID 5449) is an anterior pituitary transcriptional factor, and POU1F1 mutation is known to cause anterior pituitary hypoplasia, growth hormone and prolactin [ncbi.nlm.nih.gov]

Pituitary gland magnetic resonance imaging revealed pituitary hypoplasia. [ncbi.nlm.nih.gov]

There are two theories that are not mutually exclusive to explain the association of congenital vascular malformation and pituitary hypoplasia with hypopituitarism: the first [ncbi.nlm.nih.gov]

Midline Defect

The index patient shows mild features of Okihiro syndrome, but in addition cranial midline defects (pituitary hypoplasia and single central incisor). [ncbi.nlm.nih.gov]

J Pediat 72:81–87 Article CAS PubMed Google Scholar Hoyt WF, Kaplan SL, Grumbach MM et al. (1970) Septo-optic dysplasia and pituitary dwarfism. [link.springer.com]

Lancet 1:893–894 Article CAS PubMed Google Scholar Kaplan SL, Grumbach MM, Hoyt WF (1970) A syndrome of hypopituitary dwarfism, hypoplasia of the optic nerves and malformation [link.springer.com]

Glutamyl Ribose-5-Phosphate Storage Disease

Adenoma GRW001 Growth Retardation Hydrocephaly Lung Hypoplasia GRW010 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction GRW034 Growth [malacards.org]

2, Autosomal Dominant GRW042 GHISID2 Growth Hormone Insensitivity with Immunodeficiency GRW003 Growth Hormone Insensitivity, Partial GRW026 GHIP Growth Hormone Secreting Pituitary [malacards.org]

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center. Pituitary. 2017;20:585–93. [ncbi.nlm.nih.gov]

Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. [datospdf.com]

Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. [ncbi.nlm.nih.gov]

Syndromic Microphthalmia Type 6

pituitary hypoplasia, absence of the optic nerves and/or chiasm, developmental delay, digital malformations, and cerebellar dysplasia. [disorders.eyes.arizona.edu]

hypoplasia/aplasia 3 Pituitary anomalies/dysfunction, brain abnormalities, DD, autistic features 4 600037 610125 RAX Microphthalmia, isolated 3 3% AR Sclerocornea DD 601881 [ncbi.nlm.nih.gov]

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 2001; 10 : 39–45. 49. [nature.com]

Congenital Isolated ACTH Deficiency

However, some cases present with anterior hypoplasia, and it is not ruled out that pituitary image findings may evolve with time. [edmcasereports.com]

Pfaffle RW, DiMattia GE, Parks JS, et al, 1992 Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 257: 1118-1121. 11. [hormones.gr]

Table II. n Causes of adrenal insufficiency Adrenal dysgenesis or hypoplasia includes a sporadic form associated with pituitary hypoplasia, an autosomal recessive form, an [clinicaladvisor.com]

Chudley-Rozdilsky Syndrome

hypoplasia. [onlinelibrary.wiley.com]

Chudley AE, Rozdilsky B, Houston CS, et al: Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and [accessanesthesiology.mhmedical.com]

pituitary fossa, and hypogonadotrophic hypogonadism". [symptoma.com]

Isolated Growth Hormone Deficiency Type 2

It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). [ghr.nlm.nih.gov]

However, some cases present with anterior hypoplasia, and it is not ruled out that pituitary image findings may evolve with time. [edmcasereports.com]

The most common radiological findings in GHD children are an ectopic posterior pituitary gland, anterior pituitary hypoplasia and a thin pituitary stalk, which may be also [intechopen.com]

Witteveen-Kolk Syndrome

ORPHA:251937 X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Hypoplasia [mousephenotype.org]

OMIM:602668 Webb-Dattani Syndrome Hypoplasia of the corpus callosum, Diabetes insipidus, Cryptorchidism, Microcephaly, Pituitary hy... [mousephenotype.org]

ORPHA:904 Prader-Willi Syndrome Due To Translocation Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Microcephaly, Cerebral cortical atr... [mousephenotype.org]

Ulnar Mammary Syndrome

hypoplasia. [ncbi.nlm.nih.gov]

Clinical, biochemical and genetic investigations proved the existence of congenital normosmic IHH (nIHH) associated with pituitary hypoplasia in the two probands who were [ncbi.nlm.nih.gov]

In conclusion, UMS should be suspected in patients with delayed puberty and midline defects, including pituitary hypoplasia, in the presence of mild cues for TBX3 mutation [ncbi.nlm.nih.gov]