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Last update 23 Jan 2025

Short Stature, Idiopathic, Autosomal

Last update 23 Jan 2025

Basic Info

Synonyms

GHDP, GHIP, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL

+ [5]

Introduction-

Drugs associated with Short Stature, Idiopathic, Autosomal

Recombinant human growth hormone(Changchun Genescience)

Target

GHR

Mechanism

GHR agonists

Active Org.

Changchun Genescience Pharmaceuticals Co., Ltd.

Originator Org.

Changchun Genescience Pharmaceuticals Co., Ltd.

Active Indication

Short Stature, Idiopathic, Autosomal [+4]

Inactive Indication

Chronic Kidney Diseases [+3]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date01 Jan 1998

AK2017

Target

Mechanism

GR agonists

Active Org.

Anhui Anke Biotechnology (Group) Co., Ltd.

Originator Org.

Anhui Anke Biotechnology (Group) Co., Ltd.

Active Indication

Growth hormone deficiency [+3]

Inactive Indication-

Drug Highest PhasePhase 2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with Short Stature, Idiopathic, Autosomal

100 Translational Medicine associated with Short Stature, Idiopathic, Autosomal

0 Patents (Medical) associated with Short Stature, Idiopathic, Autosomal

130

Literatures (Medical) associated with Short Stature, Idiopathic, Autosomal

01 Mar 2025·Pregnancy Hypertension

Smaller decrease in late second trimester blood pressure is associated with gestational hypertensive disease development

Article

Author: Shree, R ; Chandrasekaran, Suchitra ; Albright, Catherine M ; Advani, Raina

OBJECTIVESWe investigated whether a smaller reduction in 2nd trimester blood pressure (BP) is associated with the development of gestational hypertensive disease.STUDY DESIGNWe conducted a retrospective cohort study utilizing a clinical database at an urban safety-net hospital. Individuals ages 18-40 with a singleton gestation and 1st trimester prenatal care were included. Those with chronic hypertension were excluded. Systolic BP (SBP), diastolic BP (DBP), & mean arterial pressure (MAP) decrease were calculated. The outcome variable, gestational hypertensive disease (GHDP) included gestational hypertension and preeclampsia with and without severe features.RESULTSOf N = 3,355 individuals that met inclusion criteria, 18 % had GHDP. The mean gestational age of 1st trimester and 2nd trimester BP values were 9.8 ± 2.1 and 23.5 ± 2.3 weeks. Those with GHDP compared to those without GHDP had a significantly higher mean 1st trimester SBP (p < 0.01), DBP (p < 0.01), and MAP (p < 0.01). Those with GHDP compared to those without GHDP had a significantly smaller decrease between 1st and 2nd trimester SBP (-1.7 ± 12.3 vs -2.9 ± 11.8, p < 0.001) and MAP (-2.1 ± 8.4 vs -2.7 ± 7.9, p = 0.01). Those with GHDP compared to those without GHDP had a smaller DBP decrease but it was not statistically significant (-2.3 ± 8.7 vs -2.7 ± 8.2, p = 0.19).CONCLUSIONSPregnant individuals who experienced a smaller decrease in SBP and MAP were more likely to develop GHDP. A reduced physiologic drop in 2nd trimester BP may suggest underlying vascular dysregulation. Future studies investigating biological mechanisms driving diminished 2nd trimester BP decline, utilizing non-invasive hemodynamic monitoring, are necessary.

01 Feb 2025·European Journal of Medical Genetics

A family with an atypical presentation of TBX3-related disorder

Article

Author: Osman, Khaled ; Tiosano, Dov ; Weiss, Karin ; Halloun, Rana ; Magen, Daniella ; Paperna, Tamar ; Asaly, Ayman ; Pollack, Shirley

BACKGROUNDUlnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described. Here, we report a family with a unique clinical presentation.METHODSExome sequencing was performed for twin siblings with micropenis, neonatal hypogonadism, and congenital giant bladder diverticula.RESULTSWe identified a novel likely pathogenic heterozygous TBX3 variant c.844G>T; p.(Gly282Cys) inherited from the apparently unaffected mother. Reverse phenotyping confirmed that the mother and the twins had features suggestive of UMS spectrum. The mother had been diagnosed as having HH, with an hypoplastic pituitary gland. The physical examination revealed a bifid nasal tip and a bi-lobulated tongue tip typical for UMS with no apparent limb or mammary defects.DISCUSSIONThis report extends the phenotype of the TBX3-related disorder to include HH and bladder anomalies without significant limb or mammary manifestations.

01 Jan 2025·Radiology Case Reports

Gastric hamartomatous inverted polyps have high internal echoes: A case report

Article

Author: Kataoka, Naoki ; Tanaka, Hironori ; Oura, Shoji

A 58-year-old woman with an elevated lesion in the stomach was referred to our hospital. Gastroscopy showed a lobulated mass resembling a submucosal tumor. The tumor showed early enhancement on computed tomography. Endoscopic ultrasound showed a lobulated tumor with distinct borders, no attenuated posterior echoes, and high internal echoes. Fine needle aspiration biopsy pathologically showed normal gastric mucosa and spindle cells growing sparsely with SMA positivity and DOG1/S100 negativities, suggesting an inflammatory fibroid polyp. The patient, therefore, underwent laparoscopy endoscopy cooperative surgery to the gastric lesion. Postoperative pathological study showed downward mucosal proliferation into the submucosal layer in a lobulated manner with hyperplasia of the crypt epithelium. Some part of the lesion was located under the normal orthotopic gastric mucosa. These pathologic findings led us to the diagnosis of gastric hamartomatous inverted polyp (GHIP). In conclusion, endoscopy specialists should note that fibrous component-rich tumors have low internal echoes and attenuated posterior echoes, whereas GHIPs have high internal echoes and no attenuated posterior echoes.

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Short Stature, Idiopathic, Autosomal

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