Introduction: McCune-Albright syndrome is characterized by the triad of fibrous dysplasia, café au lait skin pigmentation, and hyperfunctioning endocrinopathies. It is a sporadic condition caused by a missense mutation in the GNAS locus, located on chromosome 20q13.3, resulting in mosaic activation of the G protein alpha subunit. Case Presentation: We pre<X00_Del_TrennDivis>‑</X00_Del_TrennDivis>sent a paediatric patient diagnosed with McCune-Albright syndrome at the age of 5 years. During the course of his condition, he was medically managed for a number of complications, such as peripheral precocious puberty and growth hormone excess, and monitored for hyperprolactinaemia. Due to fibroblast growth factor 23-mediated phosphate wasting, the patient was commenced on oral phosphate supplements and alfacalcidol. After 2 years of treatment, this therapy did not optimize his bone biochemistry (phosphate 0.96 mmol/L, alkaline phosphatase 1,172 IU/L, and parathyroid hormone 9.1 pmol/L), and the patient was started on two-weekly burosumab therapy via subcutaneous injection. His bone biochemistry soon normalized (phosphate 1.52 mmol/L, alkaline phosphatase 358 IU/L, and parathyroid hormone 6.9 pmol/L) following this, and he remains on burosumab without any adverse effects. Discussion: This case shows the positive effect that a short-term course of burosumab has on bone health in a paediatric patient with McCune-Albright syndrome. Further research is required to assess long-term effects. Our patient also presented with precocious puberty and growth hormone excess, a coexistence that can be challenging to diagnose and is less common in males. He received medical management for both conditions, but due to the similar presentations, this case highlights the importance to investigate and diagnose associated complications as early as possible, so they can be managed in a timely manner.

1.
Zhai
X
,
Duan
L
,
Yao
Y
,
Xing
B
,
Deng
K
,
Wang
L
,
.
Clinical characteristics and management of patients with McCune-Albright syndrome with GH excess and precocious puberty: a case series and literature review
.
Front Endocrinol
.
2021
;
12
(
1400
):
672394
.
2.
Dumitrescu
CE
,
Collins
MT
.
McCune-Albright syndrome
.
Orphanet J Rare Dis
.
2008
;
3
(
1
):
12
.
3.
McCune
D
.
Osteitis fibrosa cystica: the case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism
.
Am J Dis Child
.
1936
;
52
:
743
4
.
4.
Albright
F
,
Butler
AM
,
Hampton
AO
,
Smith
P
.
Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females
.
N Engl J Med Overseas Ed
.
1937
;
216
(
17
):
727
46
.
5.
Boyce
AM
,
Collins
MT
.
Fibrous dysplasia/McCune-Albright syndrome: a rare, mosaic disease of Gα s activation
.
Endocr Rev
.
2020
;
41
(
2
):
345
70
.
6.
Weinstein
LS
,
Shenker
A
,
Gejman
PV
,
Merino
MJ
,
Friedman
E
,
Spiegel
AM
.
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
.
N Engl J Med
.
1991
;
325
(
24
):
1688
95
.
7.
Spencer
T
,
Pan
KS
,
Collins
MT
,
Boyce
AM
.
The clinical spectrum of McCune-Albright syndrome and its management
.
Horm Res Paediatr
.
2019
;
92
(
6
):
347
56
.
8.
Boyce
AM
,
Florenzano
P
,
de Castro
LF
,
Collins
MT
.
Fibrous dysplasia/McCune-Albright Syndrome
. In:
Adam
MP
,
Ardinger
HH
,
Pagon
RA
,
Wallace
SE
,
Bean
LJH
,
Gripp
KW
,
, editors.
GeneReviews(®)
.
Seattle (WA)
:
University of Washington, Seattle
;
1993–2002
.
9.
De Luca
F
,
Mitchell
V
,
Wasniewska
M
,
Arrigo
T
,
Messina
MF
,
Valenzise
M
,
.
Regulation of spermatogenesis in McCune-Albright syndrome: lessons from a 15-year follow-up
.
Eur J Endocrinol
.
2008
;
158
(
6
):
921
7
.
10.
Salenave
S
,
Boyce
AM
,
Collins
MT
,
Chanson
P
.
Acromegaly and McCune-Albright syndrome
.
J Clin Endocrinol Metab
.
2014
;
99
(
6
):
1955
69
.
11.
Gohil
A
,
Imel
EA
.
FGF23 and associated disorders of phosphate wasting
.
Pediatr Endocrinol Rev
.
2019
;
17
(
1
):
17
34
.
12.
Brown
RJ
,
Kelly
MH
,
Collins
MT
.
Cushing syndrome in the McCune-Albright syndrome
.
J Clin Endocrinol Metab
.
2010
;
95
(
4
):
1508
15
.
13.
Padidela
R
,
Cheung
MS
,
Saraff
V
,
Dharmaraj
P
.
Clinical guidelines for Burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations
.
Endocr Connections
.
2020
;
9
(
10
):
1051
6
.
14.
Schindeler
A
,
Biggin
A
,
Munns
CF
.
Clinical evidence for the benefits of Burosumab therapy for X-linked hypophosphatemia (XLH) and other conditions in adults and children
.
Front Endocrinol
.
2020
;
11
:
338
.
15.
National Institute for Health and Care Excellence (NICE)
.
Burosumab for treating X-linked hypophosphataemia in children and young people (HST8)
.
NICE
;
2018
.
16.
Carpenter
TO
,
Whyte
MP
,
Imel
EA
,
Boot
AM
,
Högler
W
,
Linglart
A
,
.
Burosumab therapy in children with X-linked hypophosphatemia
.
N Engl J Med
.
2018
;
378
(
21
):
1987
98
.
17.
Gladding
A
,
Szymczuk
V
,
Auble
BA
,
Boyce
AM
.
Burosumab treatment for fibrous dysplasia
.
Bone
.
2021
;
150
:
116004
.
18.
Skrinar
A
,
Dvorak-Ewell
M
,
Evins
A
,
Macica
C
,
Linglart
A
,
Imel
EA
,
.
The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey
.
J Endocr Soc
.
2019
;
3
(
7
):
1321
34
.
19.
Yao
Y
,
Liu
Y
,
Wang
L
,
Deng
K
,
Yang
H
,
Lu
L
,
.
Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome
.
Eur J Endocrinol
.
2017
;
176
(
3
):
295
303
.
20.
Cho
EK
,
Kim
J
,
Yang
A
,
Ki
CS
,
Lee
JE
,
Cho
SY
,
.
Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study
.
Orphanet J Rare Dis
.
2016
;
11
(
1
):
113
.
21.
Boyce
AM
,
Glover
M
,
Kelly
MH
,
Brillante
BA
,
Butman
JA
,
Fitzgibbon
EJ
,
.
Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess
.
J Clin Endocrinol Metab
.
2013
;
98
(
1
):
E126
34
.
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