Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation

Khoury, Khalil El; Barbar, Élie; Ainmelk, Youssef; Ouellet, Annie; Lavigne, Pierre; Lehoux, Jean‐Guy

doi:10.3389/fnins.2016.00527

Cited by 17 publications

(13 citation statements)

References 89 publications

(165 reference statements)

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“…The patient’s BA was similar to her chronological age from age 4 to age 15.2 (Fig. 2 ), which is different from the retarded BA reported in other cases [ 24 ].…”

Section: Discussioncontrasting

confidence: 46%

“…The heights of CLAH patients from 1.2 years to 4 years of age were reported to be between the 10th and 50th percentiles of that among the normal population [ 4 , 23 ]. The final heights in patients with CLAH were reported to be shorter or similar to the calculated midparent height [ 9 , 24 , 25 ]. Here, we constructed the first growth curve of a CLAH patient before and after sex hormone replacement.…”

Section: Discussionmentioning

confidence: 99%

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Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

Zhao

Liu

et al. 2018

BMC Endocr Disord

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BackgroundCongenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation.Case presentationWe report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The patient had typical early-onset adrenal crisis at 2 months of age. She had normal-appearing female genitalia and a karyotype of 46, XY. The serum cortisol and adrenal steroids levels were always nearly undetectable, but the adrenocorticotropic hormone levels were extremely high. Genetic analysis revealed compound heterozygous mutations at c. 229C > T (p.Q77X) in exon 3 and c. 722C > T (p.Q258X) in exon 7 of the StAR gene. The former mutation was previously detected in only two other Chinese CLAH patients. Both mutations cause truncation of the StAR protein. The case reported here appears to be a classic example of CLAH with very small adrenal glands and is the second reported CLAH case with small adrenal glands thus far. In a 15-year follow-up, the patient’s height was approximately average for females before age 4 and fell to − 1 SDS at 10 years of age. Her bone age was similar to her chronological age from age 4 to age 15 years.ConclusionsIn conclusion, this is a classic case of CLAH with exceptionally small adrenal glands. Q77X mutation seems to be more common in Chinese CLAH patients. Additionally, this is the first report of the growth pattern associated with CLAH after a 15-year follow-up.

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“…The patient’s BA was similar to her chronological age from age 4 to age 15.2 (Fig. 2 ), which is different from the retarded BA reported in other cases [ 24 ].…”

Section: Discussioncontrasting

confidence: 46%

Section: Discussionmentioning

confidence: 99%

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

Zhao

Liu

et al. 2018

BMC Endocr Disord

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“…The blockage of cholesterol transport due to STAR gene mutations causes cholesterol accumulation in the cytoplasm in the form of droplets Bose et al, 1996]. This cholesterol overloading of Leydig cells is manifested by clarified cytoplasm [Khoury et al, 2016]. It is noteworthy that we observed such Leydig cells with clarified cytoplasm in patient 1 ( Fig.…”

Section: Discussionmentioning

confidence: 67%

“…Since the STARD8 gene belongs to the same family as the STAR gene, mutations of which were previously described as causing 46,XY DSD, we sought to perform histopathological analyses of our patients to compare them with histological phenotypes of the previously reported patients carrying STAR gene mutations [Khoury et al, 2016].…”

Section: Histological Phenotypes Of Gonads Of the Patientsmentioning

confidence: 99%

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene <b><i>STARD8</i></b> on the X Chromosome

Ilaslan

Nowak

Szarras‐Czapnik

et al. 2018

Sex Dev

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Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained Leydig cells overloaded with cholesterol droplets, i.e., structures previously identified in 46,XY DSD patients carrying mutations in the STAR gene encoding another START domain family member, which is crucial for steroidogenesis. Based on the phenotypes of our patients, we propose a dual role of STARD8 in sexual development, namely in testes determination and testosterone synthesis. However, further studies are needed to confirm the involvement of STARD8 in sexual development.

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“…With ovulation induction and progesterone support, pregnancy can be achieved. 172 Milder variants have been reported. 173 …”

Section: Other Defects In Steroidogenesismentioning

confidence: 99%

Congenital Adrenal Hyperplasia

Witchel

2017

Journal of Pediatric and Adolescent Gynecology

141

119

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The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to21-hydroxylase deficiency associated with mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum reflecting the consequences of the specific mutations. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and preservation of fertility. For adolescent and adult men, prevention and early treatment of testicular adrenal rest tumors is beneficial. This article will review key aspects regarding pathophysiology, diagnosis, and treatment of CAH.

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Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation

Cited by 17 publications

References 89 publications

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene <b><i>STARD8</i></b> on the X Chromosome

Congenital Adrenal Hyperplasia

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