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Isolated growth hormone deficiency, type 5(CPHD7; IGHD5, FORMERLY)

MedGen UID:
1648500
Concept ID:
C4748435
Disease or Syndrome
Synonym: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7
 
Gene (location): RNPC3 (1p21.1)
 
Monarch Initiative: MONDO:0032569
OMIM®: 618160

Definition

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Some patients exhibit only GH deficiency, although approximately 50% of isolated GH deficiency progresses to CPHD (Gergics et al., 2021). Individuals with CPHD7 have been reported with isolated GH deficiency as well as combined deficiencies including thyroid-stimulating hormone (TSH; see 188540) and/or prolactin (PRL; 176760). In addition to severe postnatal short stature, patients exhibit delayed bone age and hypoplasia of the anterior pituitary, as well as distinctive facial dysmorphisms including frontal bossing and depressed nasal bridge (Argente et al., 2014; Verberne et al., 2020; Yamada et al., 2021). For general phenotypic information and a discussion of genetic heterogeneity of CPHD, see 613038. [from OMIM]

Clinical features

From HPO
Abdominal obesity
MedGen UID:
90229
Concept ID:
C0311277
Finding
Excessive fat around the stomach and abdomen.
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).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Anterior pituitary hypoplasia
MedGen UID:
347950
Concept ID:
C1859775
Congenital Abnormality
Underdevelopment of the anterior pituitary gland.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
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.

Professional guidelines

PubMed

Carel JC, Ecosse E, Landier F, Meguellati-Hakkas D, Kaguelidou F, Rey G, Coste J
J Clin Endocrinol Metab 2012 Feb;97(2):416-25. Epub 2012 Jan 11 doi: 10.1210/jc.2011-1995. PMID: 22238382
Lagrou K, Xhrouet-Heinrichs D, Massa G, Vandeweghe M, Bourguignon JP, De Schepper J, de Zegher F, Ernould C, Heinrichs C, Malvaux P, Craen M
J Pediatr Endocrinol Metab 2001;14 Suppl 5:1249-60; discussion 1261-2. PMID: 11964020
Kamel A, Norgren S, Lindgren AC, Luthman H, Arner P, Marcus C
Eur J Endocrinol 1998 May;138(5):510-6. doi: 10.1530/eje.0.1380510. PMID: 9625361

Recent clinical studies

Etiology

Ertl DA, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A
Eur J Endocrinol 2023 Jul 20;189(1):123-131. doi: 10.1093/ejendo/lvad085. PMID: 37440712
Sánchez Malo MJ, Hidalgo Sanz J, Hernández Abadía R, Arlabán Carpintero L, Ferrer Lozano M, Labarta Aizpún JI, de Arriba Muñoz A
Endocrinol Diabetes Nutr (Engl Ed) 2021 Oct;68(8):534-541. Epub 2021 Nov 24 doi: 10.1016/j.endien.2021.11.013. PMID: 34872636
Hwang J, Jo SW, Kwon EB, Lee SA, Chang SK
Neuroradiology 2021 Jul;63(7):1121-1133. Epub 2021 Feb 20 doi: 10.1007/s00234-021-02665-3. PMID: 33611620
Desai MP, Mithbawkar SM, Upadhye PS, Shalia KK
Indian J Pediatr 2012 Jul;79(7):875-83. Epub 2011 Oct 21 doi: 10.1007/s12098-011-0588-5. PMID: 22016154
Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF, Seminara SB, Crowley WF Jr, Pitteloud N
Proc Natl Acad Sci U S A 2010 Aug 24;107(34):15140-4. Epub 2010 Aug 9 doi: 10.1073/pnas.1009622107. PMID: 20696889Free PMC Article

Diagnosis

Hwang J, Jo SW, Kwon EB, Lee SA, Chang SK
Neuroradiology 2021 Jul;63(7):1121-1133. Epub 2021 Feb 20 doi: 10.1007/s00234-021-02665-3. PMID: 33611620
Yackobovitch-Gavan M, Lazar L, Diamant R, Phillip M, Oron T
Horm Res Paediatr 2020;93(7-8):470-476. Epub 2021 Feb 10 doi: 10.1159/000513393. PMID: 33567442
Shimon I, Badiu C, Bossowski A, Doknic M, Dzivite-Krisane I, Hána V, Kollerova J, Natchev E, Pfeifer M, Szũcs N, Hey-Hadavi J, Gomez R
Growth Horm IGF Res 2019 Jun-Aug;46-47:44-49. Epub 2019 Jun 7 doi: 10.1016/j.ghir.2019.06.001. PMID: 31234055
Desai MP, Mithbawkar SM, Upadhye PS, Shalia KK
Indian J Pediatr 2012 Jul;79(7):875-83. Epub 2011 Oct 21 doi: 10.1007/s12098-011-0588-5. PMID: 22016154
Binder G
Horm Res 2002;58 Suppl 3:2-6. doi: 10.1159/000066476. PMID: 12435888

Therapy

Iancu ME, Albu AI, Albu DN
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1211-1214. Epub 2022 Jul 1 doi: 10.1515/jpem-2022-0054. PMID: 35770839
Sánchez Malo MJ, Hidalgo Sanz J, Hernández Abadía R, Arlabán Carpintero L, Ferrer Lozano M, Labarta Aizpún JI, de Arriba Muñoz A
Endocrinol Diabetes Nutr (Engl Ed) 2021 Oct;68(8):534-541. Epub 2021 Nov 24 doi: 10.1016/j.endien.2021.11.013. PMID: 34872636
Miletta MC, Petkovic V, Eblé A, Flück CE, Mullis PE
Endocrinology 2016 Oct;157(10):3972-3982. Epub 2016 Jun 2 doi: 10.1210/en.2015-2038. PMID: 27253996
Miletta MC, Lochmatter D, Pektovic V, Mullis PE
Endocr Dev 2012;23:109-20. Epub 2012 Nov 23 doi: 10.1159/000341766. PMID: 23182825
Binder G, Iliev DI, Mullis PE, Ranke MB
Growth Horm IGF Res 2007 Jun;17(3):242-8. Epub 2007 Mar 13 doi: 10.1016/j.ghir.2007.01.014. PMID: 17360215

Prognosis

Sánchez Malo MJ, Hidalgo Sanz J, Hernández Abadía R, Arlabán Carpintero L, Ferrer Lozano M, Labarta Aizpún JI, de Arriba Muñoz A
Endocrinol Diabetes Nutr (Engl Ed) 2021 Oct;68(8):534-541. Epub 2021 Nov 24 doi: 10.1016/j.endien.2021.11.013. PMID: 34872636
Ghosh S, Chakraborty PP, Bankura B, Maiti A, Biswas R, Das M
J Clin Res Pediatr Endocrinol 2021 Nov 25;13(4):456-460. Epub 2020 Sep 17 doi: 10.4274/jcrpe.galenos.2020.2020.0005. PMID: 32936763Free PMC Article
Yackobovitch-Gavan M, Lazar L, Diamant R, Phillip M, Oron T
Horm Res Paediatr 2020;93(7-8):470-476. Epub 2021 Feb 10 doi: 10.1159/000513393. PMID: 33567442
Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA
Growth Horm IGF Res 2014 Oct;24(5):180-6. Epub 2014 Jul 30 doi: 10.1016/j.ghir.2014.07.001. PMID: 25116472
Pérez Jurado LA, Argente J
Horm Res 1994;42(4-5):189-97. doi: 10.1159/000184192. PMID: 7868072

Clinical prediction guides

Ertl DA, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A
Eur J Endocrinol 2023 Jul 20;189(1):123-131. doi: 10.1093/ejendo/lvad085. PMID: 37440712
Sánchez Malo MJ, Hidalgo Sanz J, Hernández Abadía R, Arlabán Carpintero L, Ferrer Lozano M, Labarta Aizpún JI, de Arriba Muñoz A
Endocrinol Diabetes Nutr (Engl Ed) 2021 Oct;68(8):534-541. Epub 2021 Nov 24 doi: 10.1016/j.endien.2021.11.013. PMID: 34872636
Yackobovitch-Gavan M, Lazar L, Diamant R, Phillip M, Oron T
Horm Res Paediatr 2020;93(7-8):470-476. Epub 2021 Feb 10 doi: 10.1159/000513393. PMID: 33567442
Miletta MC, Lochmatter D, Pektovic V, Mullis PE
Endocr Dev 2012;23:109-20. Epub 2012 Nov 23 doi: 10.1159/000341766. PMID: 23182825
Pérez Jurado LA, Argente J
Horm Res 1994;42(4-5):189-97. doi: 10.1159/000184192. PMID: 7868072

Recent systematic reviews

Hwang J, Jo SW, Kwon EB, Lee SA, Chang SK
Neuroradiology 2021 Jul;63(7):1121-1133. Epub 2021 Feb 20 doi: 10.1007/s00234-021-02665-3. PMID: 33611620

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