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GTR Home > Conditions/Phenotypes > Pituitary hormone deficiency, combined, 2

Pituitary hormone deficiency, combined, 2

Synonyms
Ateliotic dwarfism with hypogonadism; Hanhart dwarfism; PROP1-Related Combined Pituitary Hormone Deficiency; Pituitary dwarfism III

Summary

Excerpted from the GeneReview: PROP1-Related Combined Pituitary Hormone Deficiency
PROP1-related combined pituitary hormone deficiency (CPHD) is associated with deficiencies of: growth hormone (GH); thyroid-stimulating hormone (TSH); the two gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH); prolactin (PrL); and occasionally adrenocorticotropic hormone (ACTH). At birth, in contrast to individuals with congenital CPHD of other etiologies, neonates with PROP1-related CPHD lack perinatal signs of hypopituitarism. Mean birth weights and lengths are usually within the normal range and neonatal hypoglycemia and prolonged neonatal jaundice are not prevalent findings. Most affected individuals are ascertained because of short stature during childhood. Although TSH deficiency can present shortly after birth, TSH deficiency usually occurs with or after the onset of GH deficiency. Hypothyroidism is usually mild. FSH and LH deficiencies are typically identified at the age of onset of puberty. Affected individuals can have absent or delayed and incomplete secondary sexual development with infertility. Untreated males usually have a small penis and small testes. Some females experience menarche but subsequently require hormone replacement therapy. ACTH deficiency is less common and, when present, usually occurs in adolescence or adulthood. Neuroimaging of hypothalamic-pituitary region usually demonstrates a hypoplastic or normal anterior pituitary lobe and a normal posterior pituitary lobe.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Luciani Renata Carvalho
Mirian Yumie Nishi
Fernanda Azevedo Correa
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Available tests

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Clinical tests (68 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPHD2, PROP-1, PROP1
    Summary: PROP paired-like homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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