Long Term Follow-Up of a 46,XY Phenotypic Girl with 17.ALPHA.-Hydroxylase Deficiency Treated with Alternate-Day Dexamethasone.

Satoh, Mari; Yokoya, Susumu; Hashiguchi, Reiko; Katsumata, Noriyuki

doi:10.1507/endocrj.45.285

Cited by 3 publications

(3 citation statements)

References 12 publications

(12 reference statements)

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“…Satoh et al. reported a 46,XY phenotypic girl who was diagnosed with17-OHD at the age of 6 years because of hypertension, whereas medical history showed that she had right-sided inguinal hernia at the age of 4 years ( 15 ). Likewise, Camtosun et al.…”

Section: Discussionmentioning

confidence: 99%

An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature

Liao

Shen²,

Liao³

et al. 2022

Front. Endocrinol.

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BackgroundCombined 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a very rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. Almost 100 different mutations of the CYP17A1 gene have been reported, including p.R96Q mutation, but no case of p.R96Q mutation has been described in Asian populations.Case presentationWe describe a 22-year-old female patient of 46,XY karyotype, who presented with pseudohermaphrodism, primary amenorrhea, underdeveloped secondary sexual characteristics, delayed epiphyseal healing, hypertension, and hypokalemia. The diagnosis of 17-OHD was reached by measurement of steroid hormones and abdominal CT scan and confirmed by genetic sequencing, which revealed a homozygous p.R96Q missense mutation in the CYP17A1 gene. The patient received treatment with dexamethasone and estradiol, and 4 months of follow-up showed that both blood pressure and potassium were well controlled.ConclusionsThis is the first Asian case of CAH caused by a homozygous p.R96Q missense mutation in the CYP17A1 gene. Herein, we highlight the role of inguinal hernia in the early diagnosis of female 17-OHD and the necessity of removing the ectopic testis.

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Section: Discussionmentioning

confidence: 99%

An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature

Liao

Shen²,

Liao³

et al. 2022

Front. Endocrinol.

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“…The patient is a Japanese phenotypic female, whose clinical course had been reported in detail previously [24]. The patient was noticed to have high blood pressure and low serum potassium levels when she developed Kawasaki disease at the age of 1 year.…”

Section: Methodsmentioning

confidence: 99%

New Compound Heterozygous Mutation in the <i>CYP17</i> Gene in a 46,XY Girl with 17α-Hydroxylase/17,20-Lyase Deficiency

Katsumata¹,

Satoh

Mikami

et al. 2001

Horm Res Paediatr

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Background: 17α-Hydroxylase/17,20-lyase deficiency is caused by a defect of P450c17 which catalyzes both 17α-hydroxylase and 17,20-lyase reactions in adrenal glands and gonads. Results: In the present study, we analyzed the CYP17 gene in a Japanese patient with 17α-hydroxylase/17,20-lyase deficiency. The patient was a phenotypic girl and referred to us for right-sided inguinal hernia at the age of 4 years. Biopsy of the herniated gonad showed testicular tissue. The karyotype was 46,XY. At 6 years of age, hypertension was clearly recognized and the patient was diagnosed as having 17α-hydroxylase/17,20-lyase deficiency based on the clinical and laboratory findings. Analysis of the CYP17 gene revealed a compound heterozygous mutation. One mutation was an undescribed single nucleotide deletion at codon 247 in exon 4 (CTT to CT: 247delT) and the other was a missense mutation resulting in a substitution of His to Leu at codon 373 in exon 6 (CAC to CTC: H373L), which has been previously shown to abolish both 17α-hydroxylase and 17,20-lyase activities. The functional expression study of the 247delT mutant showed that this 247delT mutation completely eliminates both 17α-hydroxylase and 17,20-lyase activities. Conclusions: Together, these results indicate that the patient is a compound heterozygote for the mutation of the CYP17 gene (247delT and H373L) and that these mutations inactivate both 17α-hydroxylase and 17,20-lyase activities and give rise to clinically manifest 17α-hydroxylase/17,20-lyase deficiency.

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“…Several pieces of circumstantial evidence argue for the effects of adrenal androgens on BA. First, delayed BA before pubertal onset in a case of complete adrenal androgen deficiency suggests that adrenal androgens are involved in prepubertal bone maturation, as was apparently the case in a Japanese female patient with the 46,XY karyotype with 17a-hydroxylase deficiency, whose BA at the chronological age (CA) of 10 years was 6 years for a female, and 7 years for a male, child (22).…”

Section: Adrenarche and The Bone Maturationmentioning

confidence: 99%

Factors affecting prepubertal and pubertal bone age progression

Satoh

Hasegawa²

2022

Front. Endocrinol.

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Bone age (BA) is a clinical marker of bone maturation which indicates the developmental stage of endochondral ossification at the epiphysis and the growth plate. Hormones that promote the endochondral ossification process include growth hormone, insulin-like growth factor-1, thyroid hormone, estrogens, and androgens. In particular, estrogens are essential for growth plate fusion and closure in both sexes. Bone maturation in female children is more advanced than in male children of all ages. The promotion of bone maturation seen in females before the onset of puberty is thought to be an effect of estrogen because estrogen levels are higher in females than in males before puberty. Sex hormones are essential for bone maturation during puberty. Since females have their pubertal onset about two years earlier than males, bone maturation in females is more advanced than in males during puberty. In the present study, we aimed to review the factors affecting prepubertal and pubertal BA progression, BA progression in children with hypogonadism, and bone maturation and deformities in children with Turner syndrome.

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Long Term Follow-Up of a 46,XY Phenotypic Girl with 17.ALPHA.-Hydroxylase Deficiency Treated with Alternate-Day Dexamethasone.

Cited by 3 publications

References 12 publications

An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature

An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature

New Compound Heterozygous Mutation in the <i>CYP17</i> Gene in a 46,XY Girl with 17α-Hydroxylase/17,20-Lyase Deficiency

Factors affecting prepubertal and pubertal bone age progression

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