International Journal of Contemporary Pediatrics

Bhatia R et al. Int J Contemp Pediatr. 2016 Feb;3(1):262-263

http://www.ijpediatrics.com pISSN 2349-3283 | eISSN 2349-3291

DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20160172
Case Report

Van Wyk Grumbach syndrome: a case report

Ravi Bhatia1*, Gunjan Bhatia2

1
Department of Pediatrics, Pacific Medical College and Hospital, Udaipur, Rajasthan, India
2
Department of Pathologist, GBH American Hospital, Udaipur, Rajasthan, India

Received: 05 October 2015

Accepted: 10 December 2015

*Correspondence:
Dr. Ravi Bhatia,
E-mail: bhatiaravi.ped@gmail.com

Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under
the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial
use, distribution, and reproduction in any medium, provided the original work is properly cited.

ABSTRACT

Van Wyk Grumbach Syndrome is characterized by long standing hypothyroidism, precocious puberty, Ovarian cysts
and delayed bona age. We present a case of a 12 year old female who presented with Short stature and precocious
puberty. The Patient responded well to L- thyroxine therapy.

Keywords: Van Wyk Grumbach syndrome, Hypothyroidism, Precocious puberty

INTRODUCTION hirsuitism, dry skin. According to Tanner staging her

Sexual maturation score was B4, P3. Visual acuity and
Van Wyk Grumbach syndrome is characterized by fundus examination was normal. Her investigation were
juvenile hypothyroidism, delayed bone age and isosexual as follows Hb 7.4 gm/dl, MCV 97 fl, RBS 79 mg/dl,
precocious puberty with reversal to pre pubertal state blood Urea 18 mg/dl, serum creatinine 0.75 mg/dl, T3
following thyroxine replacement therapy.1 We report a 0.324 ng/ml ( normal 0.7-2.0 ng/ml ), T4 0.462 mcg/dl
case of 12 year old girl who presented to our OPD with (normal 5.5-13 mcg/dl), TSH >100 mic IU/ml( Normal
short stature, constipation and precocious puberty due to 0.27- 4.20 micIU/ml), LH 2.16 mIU/ml, FSH 6.6
long standing hypothyroidism. mIU/ml, Serum Prolactin 100.2 ng/ml (2.8-28). Her
radiological investigations revealed a bone age of two
CASE REPORT years. Ultrasound of the pelvis showed a uterine size of
7.29×2.55×5.10 cm. Uterus was anteverted, normal in
A girl aged 12 years presented to our OPD three months size, shape and echo density. Both the ovaries were
back with complains of not gaining height adequately, enlarged and multiple cystic septate areas. MRI of the
constipation and poor scholastic performance. She had patient could not be done due to financial constraints. The
attended menarche at the age of 8 years, the menstrual Patient was started on thyroxine replacement therapy and
cycles were irregular and the flow was scanty. She was was found to have improvement in symptoms when
born out of a normal vaginal delivery and was the first of reviewed after three months.
two siblings. Her parents were of normal height and
weight. There was no history of headaches, visual DISCUSSION
disturbances, vomiting and head trauma.
Sexual precocity is associated with an increase in linear
Her height was 88.5 cm (expected median height being height, premature epiphyseal fusion ultimately leading to
151 cm), Upper segment to lower segment ratio 1.3:1, short stature. Von wyk and Grumbach in 1960 first
weight was 20.4 kg. Pulse rate was 62/min; Blood described the association of long standing
pressure was 100/74 mm Hg. On examination she had hypothyroidism , isosexual precocious puberty and poly
pallor, coarse facial features, large tongue, facial cystic ovaries.1,2 The precocious puberty seen in this
syndrome is always isosexual and incomplete. In girls the

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 Bhatia R et al. Int J Contemp Pediatr. 2016 Feb;3(1):262-263

condition usually presents with irregular menstrual bleed the bone age is advanced. Delayed bone age along with
and uncommonly with breast enlargement and hypothyroidism suggests a strong possibility of Van wyk
galactorrhoea.3 Pubic hair are conspicuous by their grumbach syndrome.
absence. In boys usually it is macroorchidism without
presence of axillary hair. Early recognition of this entity Rastogi A et al, have reported a case of 10.7 year old
is important as the early institution of thyroid hormone female suspected of having van wyk grumbach syndrome
replacement therapy can help in resolution of symptoms. having responded successfully to thyroxine therapy.4
The most common cause of hypothyroidism in these Branoswki et al have reported a 8 year old girl with long
patients is auto immune thyroiditis. Von wyk grumbach standing hypothyroidism who presented with features
syndrome can be diagnosed by its salient clinical and suggestive of von wyk grumbach syndrome.5 Sneha LM
et al, have reported a case of short stature diagnosed as
radiological features.
having van wyk grumbach syndrome which responded
well to thyroxine therapy.6

Although the etiology of the disease remains unclear the

treatment plan remains the same with patients responding
well to thyroxine therapy. Patients respond well to
thyroxine therapy with improvement in symptoms and
resolution of symptoms.7 We report this interesting
association between hypothyroidism and precocious
puberty as it would help fellow colleagues in reaching to
a diagnosis sooner. The case is being reported for its
rarity.

Funding: No funding sources

Conflict of interest: None declared
Ethical approval: Not required

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Figure 1: Van Wyk Grumbach syndrome. Precocious menstruation and galactorrhea in
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McCune Albright Syndrome. However in all above cases Cite this article as: Bhatia R, Bhatia G. Van Wyk-
Grumbach syndrome- a case report. Int J Contemp
Pediatr 2016;3:262-3.

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