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. 2014:2014:480724.
doi: 10.1155/2014/480724. Epub 2014 Dec 14.

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

Juliana Gabriel Ribeiro de Andrade  1 , Antonia Paula Marques-de-Faria  1 , Helena Campos Fabbri  2 , Maricilda Palandi de Mello  2 , Gil Guerra-Júnior  3 , Andréa Trevas Maciel-Guerra  1
Affiliations

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

Juliana Gabriel Ribeiro de Andrade et al. Int J Endocrinol. 2014.

Abstract

Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazil. Ten patients were first evaluated in the 1990s and followed up until the 2010s; follow-up ranged from 13.5 to 19.7 years. All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. Results. All patients had normal motor development but three presented cognitive impairment; five had various associated conditions. At the end of the prepubertal period, FSH was high or high-normal in 3/6 patients; LH was normal in all. At the last evaluation, FSH was high or high-normal in 8/10; LH was high or high-normal in 5/10; testosterone was decreased in one. Final height in nine cases ranged from -1.57 to 0.80 SDS. All had spontaneous puberty; only one needed androgen therapy. Conclusions. There is good prognosis for growth and spontaneous pubertal development but not for fertility. Though additional studies are required, screening for learning disabilities is advisable.

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Figures

Figure 1
Figure 1
FSH levels measured by electrochemiluminescence at different ages in patients with partial gonadal dysgenesis. FSH values are presented on the y-axis on a logarithmic scale. Dotted lines on the y-axis represent the upper and lower normal limits for FSH levels in pubertal boys (1.5–12.4 IU/L).
Figure 2
Figure 2
LH levels measured by electrochemiluminescence at different ages in patients with partial gonadal dysgenesis. FSH values are presented on the y-axis on a logarithmic scale. Dotted lines on the y-axis represent the upper and lower normal limits for LH levels in pubertal boys (1.7–8.6 IU/L).
Figure 3
Figure 3
Testosterone levels measured by electrochemiluminescence at different ages in patients with partial gonadal dysgenesis. FSH values are presented on the y-axis on a linear scale. Dotted lines on the y-axis represent the upper and lower normal limits for testosterone levels in pubertal boys (2.86–8.10 ng/mL).
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