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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): 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
Ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The presence of one or more cysts of the ovary.
Unilateral renal agenesis
MedGen UID:
75607
Concept ID:
C0266294
Congenital Abnormality
A unilateral form of agenesis of the kidney.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Short femur
MedGen UID:
87499
Concept ID:
C0345375
Congenital Abnormality
An abnormal shortening of the femur.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
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.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Communicating hydrocephalus
MedGen UID:
1058
Concept ID:
C0009451
Disease or Syndrome
A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
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.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
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.
Fractured rib
MedGen UID:
20572
Concept ID:
C0035522
Injury or Poisoning
A partial or complete breakage of the rib.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Wide cranial sutures
MedGen UID:
140825
Concept ID:
C0410935
Finding
An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
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.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Thin ribs
MedGen UID:
98095
Concept ID:
C0426818
Finding
Ribs with a reduced diameter.
Metaphyseal spurs
MedGen UID:
318762
Concept ID:
C1832988
Finding
Bony outgrowths that extend laterally from the margin of the metaphysis.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Undulate ribs
MedGen UID:
409776
Concept ID:
C1969185
Finding
An abnormally wavy surface or edge of the ribs.
Subperiosteal bone formation
MedGen UID:
393241
Concept ID:
C2674853
Finding
The formation of new bone along the cortex and underneath the periosteum of a bone.
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.
Splenic cyst
MedGen UID:
452367
Concept ID:
C0272407
Disease or Syndrome
A closed sac located in the spleen.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Short nasal bridge
MedGen UID:
340281
Concept ID:
C1854689
Finding
Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hyperparathyroidism
MedGen UID:
6967
Concept ID:
C0020502
Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Congenital nystagmus
MedGen UID:
195995
Concept ID:
C0700501
Congenital Abnormality
Nystagmus dating from or present at birth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperparathyroidism, transient neonatal

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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: 34659108Free PMC Article
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
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
Seyberth HW, Weber S, Kömhoff M
Curr Opin Pediatr 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. PMID: 27906863
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

Diagnosis

Gonçalves JS, Queiró LC, Soares J, Correia CR
BMJ Case Rep 2022 Mar 16;15(3) doi: 10.1136/bcr-2021-248262. PMID: 35296496Free PMC Article
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: 32646367Free PMC Article
Seyberth HW, Weber S, Kömhoff M
Curr Opin Pediatr 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. PMID: 27906863
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: 20367762Free PMC Article
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

Therapy

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
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
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
Igarashi T, Sekine Y, Kawato H, Kamoshita S, Saigusa Y
Pediatr Nephrol 1992 May;6(3):267-9. doi: 10.1007/BF00878365. PMID: 1616837
Guignard JP, Gouyon JB
Biol Neonate 1988;53(4):243-52. doi: 10.1159/000242797. PMID: 2901276

Prognosis

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: 34659108Free PMC Article
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
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
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
Guignard JP, Gouyon JB
Biol Neonate 1988;53(4):243-52. doi: 10.1159/000242797. PMID: 2901276

Clinical prediction guides

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
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: 20367762Free PMC Article
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
Tseng UF, Shu SG, Chen CH, Chi CS
Acta Paediatr Taiwan 2001 Nov-Dec;42(6):359-62. PMID: 11811226
Guignard JP, Gouyon JB
Biol Neonate 1988;53(4):243-52. doi: 10.1159/000242797. PMID: 2901276

Recent systematic reviews

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

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