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panhypopituitarism - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

panhypopituitarism

MONDO:0019591

Also known as:Simmond's diseaseSimmonds' diseasecomplete hypopituitarism

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Overview

Insufficient production of all the anterior pituitary hormones.

Treatments1 FDA approved

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypopituitarism; and common findings: Hypogonadotropic hypogonadism, Amenorrhea, Depressed nasal ridge, and Infertility and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	10	Hypogonadotropic hypogonadism, Amenorrhea, Infertility

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

PROP1-related combined pituitary hormone deficiency (CPHD) should be suspected in individuals with the following clinical, laboratory, imaging, and family history features. CPHD is defined as growth hormone (GH) deficiency AND deficiency of at least one of the following other pituitary hormones:

Thyroid-stimulating hormone (TSH)
The two gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for panhypopituitarism, including ARGININE HYDROCHLORIDE (R-GENE, approved 1973).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with PROP1-Related Combined Pituitary Hormone Deficiency

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include procedural interventions. Research is primarily sponsored by academic and government institutions.

189 publications have been identified in PubMed for panhypopituitarism. Research spans Case Report / Case Series (68%), Review / Meta-Analysis (10%), and Clinical Trial Publication (8%).

Research Type	Count	% of Total
Patient case studies	128	68%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:90695

GARD

Genetic and Rare Diseases Info Center

GARD:15020

Questions for Your Care Team

→What are the benefits and potential side effects of R-GENE for managing panhypopituitarism?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Clinical Guidance

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 adrenocorticotropic hormone (ACTH). The secretion of all these pituitary-derived hormones declines gradually with age; often the order of appearance of hormone deficiency is GH, LH and FSH, TSH, and then ACTH. The degree of hormone deficiency and the age of onset of the deficiency are variable even within the same family. To date, hundreds of individuals have been identified with PROP1-related CPHD [, , , , , , , ]. The following description of the phenotypic features associated with this condition is based on reports that included affected adults to account for the later onset of gonadotropin and ACTH deficiency. Table 2. PROP1-Related Combined Pituitary Hormone Deficiency: Frequency of Select Features

Feature	% of Persons w/Feature	Typical Onset	Comment
GH deficiency	100%	9 mos to 8 yrs	—
TSH deficiency	50%-100%	Late infancy to childhood	—
FSH / LH deficiency	100%	At puberty	Typically identified at puberty
PrL deficiency	30%-80%	3 mos to 14 yrs	—
ACTH deficiency	30%-80%	Adolescence to adulthood	ACTH = adrenocorticotropic hormone; FSH = follicle-stimulating hormone; GH = growth hormone; LH = luteinizing hormone; PrL = prolactin; TSH = thyroid-stimulating hormone GH deficiency. In general, short stature is the first symptom reported in individuals with PROP1-related CPHD.

Source: GeneReviews — "PROP1-Related Combined Pituitary Hormone Deficiency"

GeneReviews

Differential Diagnosis

reviews genetic disorders of interest in the differential diagnosis of PROP1-related combined pituitary hormone deficiency (CPHD), including: • Selected genes associated with CPHD;* • Isolated growth hormone deficiency (which may evolve into CPHD); • Isolated hypogonadotropic hypogonadism (which may overlap molecularly with CPHD and/or evolve in CPHD). * More than 30 genes are known to be associated CPHD. Based on 21 studies, pathogenic variants in five genes – HESX1, LHX3, LHX4, PROP1, and POU1F1 – account for 12.4% of CPHD worldwide including 11.2% of simplex cases and 63% of individuals with familial CPHD. Of these five genes, PROP1 was the most frequently involved, accounting for 6.7% of simplex cases and 48.5% of individuals with familial CPHD . Note: Some CPHD conditions may present with extrapituitary abnormalities that have not been systematically reported in PROP1-related CPHD. Table 3. Genetic Disorders of Interest in the Differential Diagnosis of PROP1-Related Combined Pituitary Hormone Deficiency

Gene	Disorder	MOI	Clinical Characteristics
GLI2	GLI2-related CPHD (OMIM 165230)	AD	CPHD or IGHD; ectopic posterior lobe, polydactyly, midline defects from hypotelorism to holoprosencephaly, cleft lip/palate
HESX1	HESX1-related CPHD (OMIM 182230)	ADAR	CPHD or isolated GH deficiency; midline defects, optic nerve hypoplasia, ectopic or normal posterior pituitary lobe anterior lobe hypoplasia
LHX3	LHX3-related CPHD (OMIM 221750)	AR	Cervical spine rigidity, vertebral abnormalities, sensorineural hearing loss. Pituitary is usually hypoplastic but may be normal occasionally enlarged.
LHX4	LHX4-related CPHD (OMIM 262700)	AD	Cerebellar defects (Chiari syndrome), small anterior pituitary, ectopic posterior lobe (Biallelic pathogenic variants are assoc w/lethal phenotype w/hypopituitarism respiratory distress.)
POU1F1	POU1F1-related isolated orcombined CPHD (OMIM 613038)	ARAD	Deficiency of GH, PRL, variable TSH, rarely IGHD. Hypothyroidism can be congenital severe, or mild later in onset; pituitary usually hypoplastic on imaging studies.
Isolated growth hormone deficiency GH1	IGHD1A (OMIM 262400)	AR	Severe growth failure; affected persons treated w/exogenous GH often develop anti-GH antibodies.
IGHD1B (OMIM 612781)	AR	Growth failure is less severe than in IGHD1A persons usually respond well to exogenous GH.	—
IGHD2 (OMIM 173100)	AD	Clinical severity varies.	—

Source: GeneReviews — "PROP1-Related Combined Pituitary Hormone Deficiency"

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in each individual with newly diagnosed PROP1-related combined pituitary hormone deficiency (CPHD), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with PROP1-Related Combined Pituitary Hormone Deficiency

System/Concern	Evaluation	Comment
Endocrine	Growth growth velocity assessment	Basal IGF1; Basal stimulated GH
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of PROP1-related CPHD to facilitate medical personal decision making ITT = insulin tolerance test; MOI = mode of inheritance 1.
Treatment of Manifestations in Individuals with PROP1-Related Combined Pituitary Hormone Deficiency Manifestation/Concern	Treatment	Considerations/Other Growth hormone deficiency
deficiency	Thyroid hormone replacement (L-thyroxine) 1-3 g/kg/day	Thyroid hormone replacement should not be initiated until adrenal function has been assessed adrenal insufficiency treated, if present. Micropenis in
male infants	50 mg testosterone enanthate intramuscularly every 4 wks for a total of 3-4 doses	LH FSHdeficiency (inthose w/treatedGH deficiency normalgrowth beforeadolescence)
Treatment w/sex steroids is often continued to maintain secondary sex characteristics. LH FSHdeficiency (inthosew/untreatedGH deficiency)	Sex hormone replacement is given in lower doses started at a later age to ensure maximal growth before epiphyseal closure.	—
Infertility	Gonadotropin replacement	Note: Infertility in persons w/PROP1-related CPHD is secondary to hypogonadotropic hypogonadism; thus, appropriate treatment is gonadotropin replacement rather than use of clomiphene citrate, which requires an intact pituitary gland. ACTH deficiency

Source: GeneReviews — "PROP1-Related Combined Pituitary Hormone Deficiency"

Kisho

panhypopituitarism

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Successful GH Treatment of Hepatopulmonary Syndrome in Panhypopituitarism-related Advanced Liver Disease.

panhypopituitarism

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Successful GH Treatment of Hepatopulmonary Syndrome in Panhypopituitarism-related Advanced Liver Disease.