Non-acquired combined pituitary hormone deficiency with spine abnormalities(CPHD3)

MedGen UID:: 483740
•Concept ID:: C3489787
•: Disease or Syndrome

Synonyms:	Combined pituitary hormone deficiency type 3; CPHD3; Deafness, sensorineural with pituitary dwarfism; LHX3-Related Combined Pituitary Hormone Deficiency; Pituitary hormone deficiency, combined with rigid cervical spine; WBP syndrome; Winkelman Bethge Pfeiffer syndrome; Winkelmann-Bethge-Pfeiffer syndrome
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	LHX3 (9q34.3)

Monarch Initiative:	MONDO:0009091
OMIM®:	221750
Orphanet:	ORPHA231720

Definition

Combined pituitary hormone deficiency-3 (CPHD3) is an autosomal recessive disorder characterized by hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. Some patients have sensorineural hearing loss (summary by Rajab et al., 2008). For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038). [from OMIM]

Clinical features

From HPO

Pituitary dwarfism

MedGen UID:: 8506
•Concept ID:: C0013338
•: Disease or Syndrome

A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Anterior pituitary hypoplasia

MedGen UID:: 347950
•Concept ID:: C1859775
•: Congenital Abnormality

Underdevelopment of the anterior pituitary gland.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Anterior hypopituitarism

MedGen UID:: 871333
•Concept ID:: C4025821
•: Disease or Syndrome

A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.

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Gonadotropin deficiency

MedGen UID:: 1632671
•Concept ID:: C4552011
•: Disease or Syndrome

A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).

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Short neck

MedGen UID:: 99267
•Concept ID:: C0521525
•: Finding

Diminished length of the neck.

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Decreased response to growth hormone stimulation test

MedGen UID:: 1784655
•Concept ID:: C5539399
•: Finding

Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.

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