Combined pituitary hormone deficiencies, genetic forms

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.



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Narrow down the case reports



Total: 2 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(4.0%)
26886902
Cancerous leptomeningitis and familial congenital hypopituitarism.
Vujovic S, Vujosevic S, Kavaric S, Sopta J, Ivovic M, Saveanu A, Brue T, Korbonits M, Popovic V.
Endocrine. 2016;52(2):231-5.
Meningitis
BRCA1 BRCA2 GH1 IGF1 PROP1
c|DEL|150|A;RS#:587776683
Adult Carcinoma Fatal Outcome Females Growth Hormone Homeodomain Proteins Homo sapiens Hypopituitarism Meningeal Carcinomatosis Ovary
1
(4.0%)
8157716
Familial congenital hypopituitarism with central diabetes insipidus.
Yagi H, Nagashima K, Miyake H, Tamai S, Onigata K, Yutani S, Kuroume T.
J Clin Endocrinol Metab. 1994;78(4):884-9.
Neonatal hypoglycemia
AVP
Antibodies Child Child, Preschool Diabetes Insipidus Gene Deletion Growth Hormone Homo sapiens Hypopituitarism Infant Magnetic Resonance Imaging Male Pituitary Gland
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0040075 Hypopituitarism Obligate (100%)
HP:0000044 Hypogonadotrophic hypogonadism Frequent (79-30%)
HP:0000141 Amenorrhea Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000789 Infertility Frequent (79-30%)
HP:0000824 Growth hormone deficiency Frequent (79-30%)
HP:0000938 Osteopenia Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0001943 Hypoglycemia Frequent (79-30%)
HP:0002615 Hypotension Frequent (79-30%)
HP:0002920 Decreased circulating ACTH level Frequent (79-30%)
HP:0008245 Pituitary hypothyroidism Frequent (79-30%)
HP:0008734 Decreased testicular size Frequent (79-30%)
HP:0009888 Abnormality of secondary sexual hair Frequent (79-30%)
HP:0010311 Aplasia/Hypoplasia of the breasts Frequent (79-30%)
HP:0010626 Anterior pituitary agenesis Frequent (79-30%)
HP:0010627 Anterior pituitary hypoplasia Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0040086 Abnormal prolactin level Frequent (79-30%)
HP:0000823 Delayed puberty Occasional (29-5%)
HP:0000839 Pituitary dwarfism Occasional (29-5%)
HP:0002019 Constipation Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0005625 Osteoporosis of vertebrae Occasional (29-5%)
HP:0008187 Absence of secondary sex characteristics Occasional (29-5%)
HP:0000478 Abnormality of the eye Very rare (4-1%)
HP:0000609 Optic nerve hypoplasia Very rare (4-1%)
HP:0001250 Seizures Very rare (4-1%)
HP:0001274 Agenesis of corpus callosum Very rare (4-1%)
HP:0001331 Absent septum pellucidum Very rare (4-1%)
HP:0001360 Holoprosencephaly Very rare (4-1%)
HP:0004637 Decreased cervical spine mobility Very rare (4-1%)
HP:0008501 Median cleft lip and palate Very rare (4-1%)
HP:0010442 Polydactyly Very rare (4-1%)
HP:0011297 Abnormal digit morphology Very rare (4-1%)
HP:0011344 Severe global developmental delay Very rare (4-1%)
HP:0011755 Ectopic posterior pituitary Very rare (4-1%)
HP:0012731 Ectopic anterior pituitary gland Very rare (4-1%)
HP:0100842 Septo-optic dysplasia Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 6

Gene Symbol Gene Name Entrez Gene ID
POU1F1 POU class 1 homeobox 1 5449
PROP1 PROP paired-like homeobox 1 5626
HESX1 HESX homeobox 1 8820
OTX2 orthodenticle homeobox 2 5015
LHX4 LIM homeobox 4 89884
GLI2 GLI family zinc finger 2 2736