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Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report

W Bu

W Bu

Department of Neurology, Shandong Provincial Qianfoshan Hospital, Weifang Medical UniversityJinan, People's Republic of China
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Bu, W
, 
M Zhu

M Zhu

Department of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalJinan, People's Republic of China
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Zhu, M
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S Li

S Li

Department of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalJinan, People's Republic of China
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Li, S
, 
H Liu

H Liu

Department of Neurology, Dingtao People's HospitalHeze, People's Republic of China
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Liu, H
 e 
X Liu

X Liu

Department of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan HospitalJinan, People's Republic of China
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Liu, X
  
05 giu 2022
Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report's Cover Image
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Categoria dell'articolo: Case Report
Pubblicato online: 05 giu 2022
Pagine: 95 - 98
DOI: https://doi.org/10.2478/bjmg-2021-0024
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© 2021 W Bu et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Figure 1

Pedigree and the patient. (A) Pedigree of the family with the Simpson-Golabi-Behmel syndrome. The proband is indicated by an arrow (B, C, D, E, F). Craniofacial features and trunk and hand abnormalities of the patient. Note the abnormal tongue shape. Circles indicate supernumerary nipples.
Pedigree and the patient. (A) Pedigree of the family with the Simpson-Golabi-Behmel syndrome. The proband is indicated by an arrow (B, C, D, E, F). Craniofacial features and trunk and hand abnormalities of the patient. Note the abnormal tongue shape. Circles indicate supernumerary nipples.

Figure 2

DNA sequencing results. (A) Wild-type GPC3 gene sequence. (B) The hemizygous GPC3 gene mutation, c.185delT, in the proband. (C) The heterozygous mutation carrier. Black frames indicate the c.185 nucleotide.
DNA sequencing results. (A) Wild-type GPC3 gene sequence. (B) The hemizygous GPC3 gene mutation, c.185delT, in the proband. (C) The heterozygous mutation carrier. Black frames indicate the c.185 nucleotide.

Endocrine evaluation of the patient with the GPC3 c_185delT mutation_

Laboratory Test Patient Value Normal Range Comment
Follicle-stimulating hormone 3.16 IU/L 1.50–12.40 IU/L (male) normal
Luteinizing hormone 7.27 IU/L 1.70–8.60 IU/L (male) normal
Prolactin 46.65 ng/mL 4.04–15.20 ng/mL high
Testosterone 4.77 ng/mL 0.03–0.68 ng/mL high
Estradiol <5.00 ng/L 25.80–60.70 ng/L (male) low
Progesterone 0.221 μg/L 0.200–1.400 μg/L (male) normal
Thyroid-stimulating hormone 5.370 μIU/mL 0.270–4.200 μIU/mL (male) high
Free triiodothyronine 4.54 pmol/L 3.50–7.70 pmol/L normal
Free thyroxine 17.38 pmol/L 12.00–22.00 pmol/L normal
Adrenocortoctropic hormone 48.19 pg/mL 5.00–60.00 pg/mL normal
Random cortisol 278.20 nmol/L (8:00 a.m.);125.60 nmol/L (4:00 p.m.) 172.00–497.00 nmol/L (a.m.)71.10–286.00 nmol/L (p.m.) normalnormal
Growth hormone 1.65 ng/mL 0.12–8.90 ng/mL normal
Lingua:
Inglese
Frequenza di pubblicazione:
2 volte all'anno
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Medicina, Scienze medicali di base, Scienze medicali di base, altro
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