Long-term clinical course in three patients with MAMLD1 mutations

Yasuko Fujisawa, Maki Fukami, Tomonobu Hasegawa, Ayumi Uematsu, Koji Muroya, Tsutomu Ogata

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Although MAMLD1 on chromosome Xq28 is known as a causative gene for 46,XY disorders of sex development, clinical information is virtually limited in patients of infancy to early childhood. Here, we report long-term genital and hormonal findings in three previously described Japanese patients with MAMLD1 mutations, i.e., patients 1 and 2 with p.E197X and patient 3 with p.R726X. As previously reported, patients 1-3 exhibited penoscrotal hypospadias with chordee, microphallus, bifid/hypoplastic scrotum, and/or bilateral cryptorchidism/retractile testes, in the presence of sufficiently high serum basal or hCG-stimulated testosterone values in the mini-pubertal period to early childhood. Subsequently, patient 1 had low serum hCG-stimulated testosterone value (126 ng/dL) at 13 11/12 years of age, and manifested microphallus (4.5 cm), relatively small testes (left 8 mL and right 10 mL), Tanner stage 3 genitalia and pubic hair development at 18 3/12 years of age. Similarly, patients 2 and 3 showed mild hypergonadotropic hypogonadism at 7 0/12 and 9 9/12 years of age, respectively, with serum GnRH-stimulated LH values of 5.5 and 7.2 mIU/mL and FSH values of 10.3 and 19.8 mIU/mL and hCG-stimulated testosterone values of 70 and 80 ng/dL, respectively. Testis ultrasound studies delineated microlithiasis in patients 1 and 3. These results imply for the first time deterioration of testicular function with age in patients with pathologic MAMLD1 mutations.

Original languageEnglish
Pages (from-to)835-839
Number of pages5
JournalEndocrine Journal
Volume63
Issue number9
DOIs
Publication statusPublished - 2016

Fingerprint

Mutation
Testosterone
Testis
Serum
XY Disorders of Sex Development 46
Hypospadias
Scrotum
Cryptorchidism
Genitalia
Hypogonadism
Gonadotropin-Releasing Hormone
Hair
Chromosomes
Genes

Keywords

  • 46
  • Clinical course
  • Deterioration
  • MAMLD1
  • Testicular function
  • XY DSD

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Long-term clinical course in three patients with MAMLD1 mutations. / Fujisawa, Yasuko; Fukami, Maki; Hasegawa, Tomonobu; Uematsu, Ayumi; Muroya, Koji; Ogata, Tsutomu.

In: Endocrine Journal, Vol. 63, No. 9, 2016, p. 835-839.

Research output: Contribution to journalArticle

Fujisawa, Y, Fukami, M, Hasegawa, T, Uematsu, A, Muroya, K & Ogata, T 2016, 'Long-term clinical course in three patients with MAMLD1 mutations', Endocrine Journal, vol. 63, no. 9, pp. 835-839. https://doi.org/10.1507/endocrj.EJ16-0143
Fujisawa, Yasuko ; Fukami, Maki ; Hasegawa, Tomonobu ; Uematsu, Ayumi ; Muroya, Koji ; Ogata, Tsutomu. / Long-term clinical course in three patients with MAMLD1 mutations. In: Endocrine Journal. 2016 ; Vol. 63, No. 9. pp. 835-839.
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