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Hyperparathyroidism, transient neonatal(HRPTTN)

MedGen UID:: 722059
•Concept ID:: C1300287
•: Disease or Syndrome

Synonyms:	HRPTTN; HYPERPARATHYROIDISM, TRANSIENT NEONATAL
SNOMED CT:	Transient neonatal hyperparathyroidism (389201004)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TRPV6 (7q34)

Monarch Initiative:	MONDO:0032591
OMIM®:	618188

Definition

Transient neonatal hyperparathyroidism is characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Because 80% of calcium is transferred during the third trimester, abnormalities may not be detected on second-trimester ultrasounds. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age (Suzuki et al., 2018). [from OMIM]

Clinical features

From HPO

Feeding difficulties

MedGen UID:: 65429
•Concept ID:: C0232466
•: Finding

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

See: Feature record | Search on this feature

Delayed speech and language development

MedGen UID:: 105318
•Concept ID:: C0454644
•: Finding

A degree of language development that is significantly below the norm for a child of a specified age.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Osteopenia

MedGen UID:: 18222
•Concept ID:: C0029453
•: Disease or Syndrome

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

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Narrow chest

MedGen UID:: 96528
•Concept ID:: C0426790
•: Finding

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

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Short ribs

MedGen UID:: 98094
•Concept ID:: C0426817
•: Finding

Reduced rib length.

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Thin ribs

MedGen UID:: 98095
•Concept ID:: C0426818
•: Finding

Ribs with a reduced diameter.

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Femoral bowing

MedGen UID:: 347888
•Concept ID:: C1859461
•: Finding

Bowing (abnormal curvature) of the femur.

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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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Elevated circulating alkaline phosphatase concentration

MedGen UID:: 727252
•Concept ID:: C1314665
•: Finding

Abnormally increased serum levels of alkaline phosphatase activity.

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Polyhydramnios

MedGen UID:: 6936
•Concept ID:: C0020224
•: Pathologic Function

The presence of excess amniotic fluid in the uterus during pregnancy.

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Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Abnormality of prenatal development or birth
- Polyhydramnios
Abnormality of the digestive system
- Feeding difficulties
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Delayed speech and language development
- Motor delay
Abnormality of the respiratory system
- Respiratory distress

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHyperparathyroidism, transient neonatal

Phenotypic abnormality
- Abnormality of the endocrine system
  - Abnormality of the parathyroid gland
    - Abnormality of the parathyroid physiology
      - Hyperparathyroidism
        Hyperparathyroidism, transient neonatal

Professional guidelines

PubMed

Calcium metabolism and growth during early treatment of children with X-linked hypophosphataemic rickets.

Kruse K, Hinkel GK, Griefahn B
Eur J Pediatr 1998 Nov;157(11):894-900. doi: 10.1007/s004310050962. PMID: 9835432

See all (1)

Recent clinical studies

Etiology

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.

Höppner J, Lais S, Roll C, Wegener-Panzer A, Wieczorek D, Högler W, Grasemann C
Front Endocrinol (Lausanne) 2021;12:700612. Epub 2021 Oct 1 doi: 10.3389/fendo.2021.700612. PMID: 34659108 Free PMC Article

Surgical management of primary hyperparathyroidism during pregnancy: a systematic review of the literature.

Nastos C, Paspala A, Mavroeidi I, Stavratis F, Lampadiari V, Kalantaridou S, Peppa M, Pikoulis E
Gynecol Endocrinol 2021 Dec;37(12):1086-1095. Epub 2021 May 28 doi: 10.1080/09513590.2021.1932801. PMID: 34044722

A neonate with mucolipidosis II and transient secondary hyperparathyroidism.

Leyva C, Buch M, J Wierenga K, Berkovitz G, Seeherunvong T
J Pediatr Endocrinol Metab 2019 Dec 18;32(12):1399-1402. doi: 10.1515/jpem-2019-0162. PMID: 31758855

Bartter's and Gitelman's syndrome.

Seyberth HW, Weber S, Kömhoff M
Curr Opin Pediatr 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. PMID: 27906863

Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism.

Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P
Eur J Pediatr 2008 Apr;167(4):431-4. Epub 2007 Jun 15 doi: 10.1007/s00431-007-0528-6. PMID: 17569990

See all (9)

Diagnosis

Transient neonatal hypocalcaemia caused by maternal hyperparathyroidism.

Gonçalves JS, Queiró LC, Soares J, Correia CR
BMJ Case Rep 2022 Mar 16;15(3) doi: 10.1136/bcr-2021-248262. PMID: 35296496 Free PMC Article

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.

Suzuki Y, Sawada H, Tokumasu T, Suzuki S, Ninomiya S, Shirai M, Mukai T, Saito CT, Nishimura G, Tominaga M
J Physiol Sci 2020 Jul 9;70(1):33. doi: 10.1186/s12576-020-00761-2. PMID: 32646367

Bartter's and Gitelman's syndrome.

Seyberth HW, Weber S, Kömhoff M
Curr Opin Pediatr 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. PMID: 27906863

The natural history and osteodystrophy of mucolipidosis types II and III.

David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D
J Paediatr Child Health 2010 Jun;46(6):316-22. Epub 2010 Mar 29 doi: 10.1111/j.1440-1754.2010.01715.x. PMID: 20367762 Free PMC Article

Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.

Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. doi: 10.1515/jpem.2006.19.6.859. PMID: 16886594

See all (25)

Therapy

Severe neonatal hypercalcemia revealing congenital mesoblastic nephroma: A case report and management of neonatal hypercalcemia: Severe neonatal hypercalcemia revealing congenital mesoblastic nephroma.

Tanné C, Pracros JP, Dijoud F, Mure PY, Bordet F, Duncan A, Bacchetta J
Arch Pediatr 2022 Feb;29(2):153-156. Epub 2022 Jan 14 doi: 10.1016/j.arcped.2021.11.013. PMID: 35039190

Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.

Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. doi: 10.1515/jpem.2006.19.6.859. PMID: 16886594

Transient pseudohypoparathyroidism of the neonate.

Minagawa M, Yasuda T, Kobayashi Y, Niimi H
Eur J Endocrinol 1995 Aug;133(2):151-5. doi: 10.1530/eje.0.1330151. PMID: 7655638

Transient neonatal distal renal tubular acidosis with secondary hyperparathyroidism.

Igarashi T, Sekine Y, Kawato H, Kamoshita S, Saigusa Y
Pediatr Nephrol 1992 May;6(3):267-9. doi: 10.1007/BF00878365. PMID: 1616837

Hyperechoic renal medullary pyramids in infants and children.

Shultz PK, Strife JL, Strife CF, McDaniel JD
Radiology 1991 Oct;181(1):163-7. doi: 10.1148/radiology.181.1.1887027. PMID: 1887027

See all (16)

Prognosis

Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.

A neonate with mucolipidosis II and transient secondary hyperparathyroidism.

Leyva C, Buch M, J Wierenga K, Berkovitz G, Seeherunvong T
J Pediatr Endocrinol Metab 2019 Dec 18;32(12):1399-1402. doi: 10.1515/jpem-2019-0162. PMID: 31758855

Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism.

Poomthavorn P, Ongphiphadhanakul B, Mahachoklertwattana P
Eur J Pediatr 2008 Apr;167(4):431-4. Epub 2007 Jun 15 doi: 10.1007/s00431-007-0528-6. PMID: 17569990

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

Tõke J, Czirják G, Patócs A, Enyedi B, Gergics P, Csákváry V, Enyedi P, Tóth M
Clin Endocrinol (Oxf) 2007 Sep;67(3):385-92. Epub 2007 Jun 7 doi: 10.1111/j.1365-2265.2007.02896.x. PMID: 17555508

Adverse effects of drugs on the immature kidney.

Guignard JP, Gouyon JB
Biol Neonate 1988;53(4):243-52. doi: 10.1159/000242797. PMID: 2901276

See all (8)

Clinical prediction guides

Molecular and clinical analysis of a neonatal severe hyperparathyroidism case caused by a stop mutation in the calcium-sensing receptor extracellular domain representing in effect a human 'knockout'.

Ward DT, Mughal MZ, Ranieri M, Dvorak-Ewell MM, Valenti G, Riccardi D
Eur J Endocrinol 2013 Jul;169(1):K1-7. Epub 2013 Jun 1 doi: 10.1530/EJE-13-0094. PMID: 23612447

The natural history and osteodystrophy of mucolipidosis types II and III.

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

Tõke J, Czirják G, Patócs A, Enyedi B, Gergics P, Csákváry V, Enyedi P, Tóth M
Clin Endocrinol (Oxf) 2007 Sep;67(3):385-92. Epub 2007 Jun 7 doi: 10.1111/j.1365-2265.2007.02896.x. PMID: 17555508

Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II.

Sathasivam A, Garibaldi L, Murphy R, Ibrahim J
J Pediatr Endocrinol Metab 2006 Jun;19(6):859-62. doi: 10.1515/jpem.2006.19.6.859. PMID: 16886594

Transient neonatal hypoparathyroidism: report of four cases.

Tseng UF, Shu SG, Chen CH, Chi CS
Acta Paediatr Taiwan 2001 Nov-Dec;42(6):359-62. PMID: 11811226

See all (12)

Recent systematic reviews

Surgical management of primary hyperparathyroidism during pregnancy: a systematic review of the literature.

See all (1)

MedGen

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Hyperparathyroidism, transient neonatal(HRPTTN)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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