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Pituitary hormone deficiency, combined 2(CPHD2)

MedGen UID:
209236
Concept ID:
C0878683
Disease or Syndrome
Synonyms: Ateliotic dwarfism with hypogonadism; CPHD2; Hanhart dwarfism; Panhypopituitarism; Pituitary dwarfism III; PROP1-Related Combined Pituitary Hormone Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PROP1 (5q35.3)
OMIM®: 262600

Disease characteristics

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). Most affected individuals are ascertained because of growth failure and failure to thrive starting in infancy or early childhood (approximate age range: 9 months to 8 years). Hypothyroidism is usually mild and occurs in later infancy and childhood. 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. [from GeneReviews]
Authors:
Laura CG de Graaff   view full author information

Additional description

From GHR
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection.Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain.  https://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency

Clinical features

Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include. -Fatigue. -Weight gain. -A puffy face. -Cold intolerance. -Joint and muscle pain. -Constipation. -Dry skin. -Dry, thinning hair. -Decreased sweating. -Heavy or irregular menstrual periods and fertility problems. -Depression. -Slowed heart rate. To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Neonatal hypoglycemia
MedGen UID:
57646
Concept ID:
C0158986
Finding
Hypoglycemia that occurs during the neonatal period. Causes include inadequate hepatic glycogen stores, inadequate lipid stores, or inadequate amino acid muscle stores. Signs and symptoms include tachypnea, respiratory distress, tachycardia or bradycardia, lethargy, and seizures.
Hypoglycemic seizures
MedGen UID:
164079
Concept ID:
C0877056
Disease or Syndrome

Recent clinical studies

Etiology

Rohayem J, Drechsel H, Tittel B, Hahn G, Pfaeffle R, Huebner A
Horm Res Paediatr 2016;86(2):106-116. Epub 2016 Aug 3 doi: 10.1159/000448098. PMID: 27487097
Haim-Pinhas H, Kauli R, Lilos P, Laron Z
Growth Horm IGF Res 2016 Apr;27:46-52. Epub 2016 Feb 19 doi: 10.1016/j.ghir.2016.01.004. PMID: 26947989
Mao J, Xu H, Wang X, Huang B, Liu Z, Zhen J, Nie M, Min L, Wu X
Hum Reprod 2015 Sep;30(9):2031-7. Epub 2015 Jul 3 doi: 10.1093/humrep/dev158. PMID: 26141714
Otto AP, França MM, Correa FA, Costalonga EF, Leite CC, Mendonca BB, Arnhold IJ, Carvalho LR, Jorge AA
Pituitary 2015 Aug;18(4):561-7. doi: 10.1007/s11102-014-0610-9. PMID: 25315032
Inoue H, Mukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K; Japan Growth Genome Consortium.
Clin Endocrinol (Oxf) 2012 Jan;76(1):78-87. doi: 10.1111/j.1365-2265.2011.04165.x. PMID: 21722153

Diagnosis

Mao J, Xu H, Wang X, Huang B, Liu Z, Zhen J, Nie M, Min L, Wu X
Hum Reprod 2015 Sep;30(9):2031-7. Epub 2015 Jul 3 doi: 10.1093/humrep/dev158. PMID: 26141714
Hu Y, Wang Q, Wang Z, Wang F, Guo X, Li G
Int J Mol Med 2015 Feb;35(2):358-66. Epub 2014 Nov 28 doi: 10.3892/ijmm.2014.2016. PMID: 25434367Free PMC Article
Otto AP, França MM, Correa FA, Costalonga EF, Leite CC, Mendonca BB, Arnhold IJ, Carvalho LR, Jorge AA
Pituitary 2015 Aug;18(4):561-7. doi: 10.1007/s11102-014-0610-9. PMID: 25315032
Gorbenko Del Blanco D, Romero CJ, Diaczok D, de Graaff LC, Radovick S, Hokken-Koelega AC
Eur J Endocrinol 2012 Sep;167(3):441-52. Epub 2012 Jun 19 doi: 10.1530/EJE-12-0333. PMID: 22715480
Bonfig W, Krude H, Schmidt H
Eur J Pediatr 2011 Aug;170(8):1017-21. Epub 2011 Jan 20 doi: 10.1007/s00431-011-1393-x. PMID: 21249393

Therapy

Rohayem J, Drechsel H, Tittel B, Hahn G, Pfaeffle R, Huebner A
Horm Res Paediatr 2016;86(2):106-116. Epub 2016 Aug 3 doi: 10.1159/000448098. PMID: 27487097
Mao J, Xu H, Wang X, Huang B, Liu Z, Zhen J, Nie M, Min L, Wu X
Hum Reprod 2015 Sep;30(9):2031-7. Epub 2015 Jul 3 doi: 10.1093/humrep/dev158. PMID: 26141714
Hu Y, Wang Q, Wang Z, Wang F, Guo X, Li G
Int J Mol Med 2015 Feb;35(2):358-66. Epub 2014 Nov 28 doi: 10.3892/ijmm.2014.2016. PMID: 25434367Free PMC Article
Zhang H, Wang Y, Han L, Gu X, Shi D
Horm Res Paediatr 2010;74(2):98-105. Epub 2010 Apr 15 doi: 10.1159/000313375. PMID: 20395664
Nose O, Tatsumi K, Nakano Y, Amino N
J Pediatr Endocrinol Metab 2006 Apr;19(4):491-8. PMID: 16759034

Prognosis

Rohayem J, Drechsel H, Tittel B, Hahn G, Pfaeffle R, Huebner A
Horm Res Paediatr 2016;86(2):106-116. Epub 2016 Aug 3 doi: 10.1159/000448098. PMID: 27487097
Haim-Pinhas H, Kauli R, Lilos P, Laron Z
Growth Horm IGF Res 2016 Apr;27:46-52. Epub 2016 Feb 19 doi: 10.1016/j.ghir.2016.01.004. PMID: 26947989
Mao J, Xu H, Wang X, Huang B, Liu Z, Zhen J, Nie M, Min L, Wu X
Hum Reprod 2015 Sep;30(9):2031-7. Epub 2015 Jul 3 doi: 10.1093/humrep/dev158. PMID: 26141714
Otto AP, França MM, Correa FA, Costalonga EF, Leite CC, Mendonca BB, Arnhold IJ, Carvalho LR, Jorge AA
Pituitary 2015 Aug;18(4):561-7. doi: 10.1007/s11102-014-0610-9. PMID: 25315032
Laml T, Preyer O, Umek W, Huber J, Hengstschläger M
Gynecol Obstet Invest 2004;58(2):114-6. Epub 2004 Jun 8 doi: 10.1159/000078864. PMID: 15192287

Clinical prediction guides

Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A
Horm Metab Res 2016 Dec;48(12):822-827. Epub 2016 Oct 18 doi: 10.1055/s-0042-117112. PMID: 27756091
Carlomagno Y, Salerno M, Vivenza D, Capalbo D, Godi M, Mellone S, Tiradani L, Corneli G, Momigliano-Richiardi P, Bona G, Giordano M
J Endocrinol Invest 2009 Sep;32(8):653-8. Epub 2009 May 12 doi: 10.1007/BF03345736. PMID: 19498317
Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K
J Clin Endocrinol Metab 2009 Jan;94(1):314-9. Epub 2008 Oct 14 doi: 10.1210/jc.2008-1219. PMID: 18854396
Georgopoulos NA, Katsikis I, Giamalis P, Koika V, Adonakis G, Kourtis A, Kourounis G, Panidis D
Gynecol Endocrinol 2006 Dec;22(12):704-9. doi: 10.1080/09513590601030290. PMID: 17162714
Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K
J Clin Endocrinol Metab 2003 Jan;88(1):45-50. doi: 10.1210/jc.2002-020818. PMID: 12519827

Recent systematic reviews

De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M; Italian Study Group on Genetics of CPHD.
Clin Endocrinol (Oxf) 2015 Dec;83(6):849-60. Epub 2015 Aug 6 doi: 10.1111/cen.12849. PMID: 26147833
Maison P, Griffin S, Nicoue-Beglah M, Haddad N, Balkau B, Chanson P; Metaanalysis of Blinded, Randomized, Placebo-Controlled Trials.
J Clin Endocrinol Metab 2004 May;89(5):2192-9. doi: 10.1210/jc.2003-030840. PMID: 15126541
Petak SM, Nankin HR, Spark RF, Swerdloff RS, Rodriguez-Rigau LJ; American Association of Clinical Endocrinologists.
Endocr Pract 2002 Nov-Dec;8(6):440-56. PMID: 15260010

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