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Physical assessment and reference growth curves for children with 46, XY disorders of sex development.

ABSTRACT: Importance:Impaired growth is an important factor in patients with disorders of sex development (DSD). Objective:To profile the growth of children with 46, XY DSD. Methods:We compared heights between 46, XY DSD children and normal boys and obtained growth curves for DSD using the ?-median coefficient of variation method. The study subjects were categorized into groups with good response and poor response to the human chorionic gonadotrophin (HCG) test according to testosterone levels and were compared height standard deviation scores (HtSDS) with normal boys. Results:A total of 571 children with noncongenital adrenal hyperplasia (CAH) 46, XY DSD were enrolled in this study. The overall HtSDS for the DSD subjects were -0.031 ± 1.202. The HtSDS of DSD boys were lower than those for normal boys among multiple age groups since early infancy. In children aged ?12 years, the HtSDS values were significantly lower than the normal reference values for boys of the same age in both the good and poor response groups (P = .025 and P = .003, respectively).The HtSDS in the poor response group was generally lower than the normal reference value (P = .017). The average HtSDS values in the poor response groups were lower than those in the good response groups across multiple age groups. Interpretation:Growth retardation was evident in boys with non-CAH 46,XY DSD in early childhood and puberty. The level of growth retardation was related to testosterone level. DSD-specific growth curves can improve our understanding of growth dynamics and minimize the scope for bias in the assessment of growth in these children.

SUBMITTER: Wu D

PROVIDER: S-EPMC7331437 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Physical assessment and reference growth curves for children with 46, XY disorders of sex development.

Wu Di D Chen Hui H Gong Chunxiu C

Pediatric investigation 20171227 1

<h4>Importance</h4>Impaired growth is an important factor in patients with disorders of sex development (DSD).<h4>Objective</h4>To profile the growth of children with 46, XY DSD.<h4>Methods</h4>We compared heights between 46, XY DSD children and normal boys and obtained growth curves for DSD using the λ-median coefficient of variation method. The study subjects were categorized into groups with good response and poor response to the human chorionic gonadotrophin (HCG) test according to testoster ...[more]

PMID: 32851211

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Project description:BackgroundSteroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic-pituitary-gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia, partial gonadal dysgenesis, and absent/rudimentary Müllerian structures. In these cases, testosterone is usually low in early infancy, indicating significantly impaired androgen synthesis. Further, Sertoli cell dysfunction is seen (low inhibin B, anti-Müllerian hormone). However, gonadal function at puberty in patients with NR5A1 mutations is unknown.Subjects and methodsClinical assessment, endocrine evaluation, and genetic analysis were performed in one female and one male with 46,XY DSD who showed spontaneous virilization during puberty. The female patient presented at adolescence with clitoral hypertrophy, whereas the male patient presented at birth with severe hypospadias and entered puberty spontaneously. Molecular analysis of NR5A1 was performed followed by in vitro functional analysis of the two novel mutations detected.ResultsTestosterone levels were normal during puberty in both patients. Analysis of NR5A1 revealed two novel heterozygous missense mutations in the ligand-binding domain of SF-1 (patient 1: p.L376F; patient 2: p.G328V). The mutant proteins showed reduced transactivation of the CYP11A promoter in vitro.ConclusionPatients with 46,XY DSD and NR5A1 mutations can produce sufficient testosterone for spontaneous virilization during puberty. Phenotypic females (46,XY) with NR5A1 mutations can present with clitoromegaly at puberty, a phenotype similar to other partial defects of androgen synthesis or action. Testosterone production in 46,XY males with NR5A1 mutations can be sufficient for virilization at puberty. As progressive gonadal dysgenesis is likely, gonadal function should be monitored in adolescence and adulthood, and early sperm cryopreservation considered in male patients if possible.

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Physical assessment and reference growth curves for children with 46, XY disorders of sex development.

Publications

Physical assessment and reference growth curves for children with 46, XY disorders of sex development.

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