ESPE Abstracts (2019) 92 P3-219

Final Adult Height in SRY-Negative 46,XX Ovotesticular Differences of Sex Development Individuals

Maria Tereza Martins Ferrari1,2, Daniela Moraes Rodrigues 1,2, Nathalia Lisboa Gomes1, Mirian Yumi Nishi2, Rafael Loch Batista1,2, Elaine Maria Frade Costa1,2, Berenice Bilharinho Mendonca1,2, Sorahia Domenice 1,2, Patricia Sales Marques Cruz1, Maria Helena Sircili1


1Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. 2Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, São Paulo, Brazil


Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue in patients raised in the male sex.

Objective: To describe the final adult height of ten 46,XX OT patients untreated with recombinant human growth hormone (rhGH) and two 46,XX OT patients treated with rhGH.

Methods: The final adult height of twelve male SRY (-) 46,XX OT-DSD patients were retrospectively studied. Two of them (cases A and B) received 0.05 mg/Kg/day rhGH therapy, associated with GnRH analog or aromatase inhibitor. Ten patients not received rhGH therapy neither hormone-blocking therapy. Seven of 10 patients had spontaneous puberty and in three patients that underwent bilateral gonadectomy at childhood, pubertal induction was done.

Results: Mean adult height in 46,XX OT DSD patients that not received rhGH therapy was 163.7cm (range: 153.5 to 176cm). The final adult height in patients with spontaneous puberty was 163,5cm and in the induced puberty group was 165,8cm. Case A: Therapy with rhGH was started with chronological age (CA) of 10 yrs and bone age (BA) of 13 yrs. His height was 136cm (SD -0.3) and the growth rate (GR) 3.5cm/year. The target height (male sex) was 169cm. GnRH analogue was simultaneously initiated and was maintained for 9 months. The duration of rhGH therapy was 5 yrs. His adult height was 171cm. Case B: Pubertal induction using testosterone esters (50mg, monthly) was started at 14 yrs-old, BA was 13.5 yrs, GR 5.2cm/yr and height 141cm. The rhGH treatment was started at age of 15.1 yrs, BA 14 yrs and height 147cm (SD -2). Throughout the first year of rhGH, his GR was 9.4 cm. Letrozole (2.5 mg daily) was associated in the last 6 months of treatment. The duration of rhGH therapy was 1.75 yrs. His adult height was 158.5cm. He was adopted and the informed target height (male sex) was 152cm. Side effects were not observed in the both patients.

Conclusion: Early rhGH treatment may be useful to optimize growth and the adult height of male raised 46,XX ovotesticular DSD patients.