IllnessPituitary hormone deficiency, combined; differential diagnosis

NGS +

[Sanger]

In combined pituitary hormone deficiency (CPHD; panhypopituitarism), GH is absent, as is at least one other pituitary hormone. About half of isolated cases of GH deficiency develop into CPHD after just over five years. Clinically, CPHD is often discovered in children with decreased growth velocity. Hormone deficiency at birth can lead to hypoglycemia and sudden death. Imaging sometimes reveals a pituitary tumor, the benign nature of which is often confirmed by molecular genetics. All monogenic modes of inheritance and also multifactorial events are observed. The diagnostic rate depends on the number of genes examined or the coverage in whole-exome sequencing. Mutations in the PROP1 gene can account for up to >50% of genetic causes. Therefore, an inconspicuous genetic finding does not mean exclusion of the suspected clinical diagnosis.

Reference: https://medlineplus.gov/genetics/condition/combined-pituitary-hormone-deficiency/

• Alias: Combined pituitary hormone deficiency
• Allelic: Hartsfield syndrome (FGFR1)
• Allelic: Holoprosencephaly 3 (SHH)
• Allelic: Holoprosencephaly 9 (GLI2)
• Allelic: Jackson-Weiss syndrome (FGFR1)
• Allelic: Mental retardation, XL, with isolated growth hormone deficiency (SOX3)
• Allelic: Microphthalmia with coloboma 5 (SHH)
• Allelic: Microphthalmia, syndromic 3 (SOX2)
• Allelic: Microphthalmia, syndromic 5 (OTX2)
• Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
• Allelic: Osteoglophonic dysplasia (FGFR1)
• Allelic: Pfeiffer syndrome (FGFR1)
• Allelic: Retinal dystrophy, early-onset, with or without pituitary dysfunction (OTX2)
• Allelic: Schizencephaly (SHH)
• Allelic: Single median maxillary central incisor (SHH)
• Allelic: Trigonocephaly 1 (FGFR1)
• CHARGE syndrome (CHD7)
• Congenital hypopituitarism (FOXA2)
• Culler-Jones syndrome (GLI2)
• Holoprosencephaly 11 (CDON)
• Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
• Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
• Hypothyroidism, central, + testicular enlargement (IGSF1)
• Panhypopituitarism, XL (SOX3)
• Pituitary hormone deficiency (KCNQ1)
• Pituitary hormone deficiency (TCF7L1)
• Pituitary hormone deficiency, combined or isolated, 7 (RNPC3)
• Pituitary hormone deficiency, combined, 1 (POU1F1)
• Pituitary hormone deficiency, combined, 2 (PROP1)
• Pituitary hormone deficiency, combined, 3 (LHX3)
• Pituitary hormone deficiency, combined, 4 (LHX4)
• Pituitary hormone deficiency, combined, 5 (HESX1)
• Pituitary hormone deficiency, combined, 6 (OTX2)