Growth hormone insensitivity with immune dysregulation 1, autosomal recessive(GHISID1)

MedGen UID:: 1734133
•Concept ID:: C5435698
•: Disease or Syndrome

Synonyms:	Growth hormone insensitivity due to postreceptor defect; GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE; Growth hormone insensitivity with immunodeficiency; Laron syndrome due to postreceptor defect; Laron syndrome with immunodeficiency
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.	STAT5B (17q21.2)

Monarch Initiative:	MONDO:0100211
OMIM®:	245590
Orphanet:	ORPHA220465

Definition

Autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1) is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250). Affected individuals usually have failure to thrive, delayed bone age, and delayed puberty associated with decreased serum IGF1 (147440), IGFBP3 (146732), and ALS (601489). Some patients may have dysmorphic features. Most, but not all, patients have features of immune dysregulation, including chronic pulmonary disease, interstitial pneumonitis, recurrent or severe infections, eczema, and autoimmune arthritis. The immune features are highly variable (summary by Kofoed et al., 2003; Vidarsdottir et al., 2006). See 262500 for a form of growth hormone insensitivity caused by mutation in the growth hormone receptor gene (GHR; 600946). [from OMIM]

Clinical features

From HPO

Severe short stature

MedGen UID:: 3931
•Concept ID:: C0013336
•: Disease or Syndrome

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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Abnormally high-pitched voice

MedGen UID:: 66836
•Concept ID:: C0241703
•: Finding

A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.

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Lymphoid interstitial pneumonia

MedGen UID:: 82682
•Concept ID:: C0264511
•: Disease or Syndrome

Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.

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Respiratory distress

MedGen UID:: 96907
•Concept ID:: C0476273
•: Sign or Symptom

Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.

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Concave nasal ridge

MedGen UID:: 78105
•Concept ID:: C0264169
•: Finding

Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.

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Prominent forehead

MedGen UID:: 373291
•Concept ID:: C1837260
•: Finding

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

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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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