Juvenile breast hypertrophy: Successful breast reduction with a loss of 16 % of body weight, with no recurrence observed at 2-year follow-up, a rare case report

Abstract

Introduction and importance

Juvenile breast hypertrophy, also known as juvenile macromastia or juvenile gigantomastia, is a rare disorder characterized by rapid, excessive breast growth in prepubertal or peripubertal girls, with no apparent cause. Juvenile breast hypertrophy is considered one of the most challenging mastopathies to manage.

Case presentation

We present the case of a 12-year-old Moroccan girl with virginal breast hypertrophy, who was successfully treated.

Clinical discussion

Juvenile breast hypertrophy is a benign disorder characterized by breast enlargement without the presence of masses. It can present diagnostic challenges for physicians and necessitates a multidisciplinary approach for accurate diagnosis, supported by histological findings of stromal and ductal hyperplasia. Additionally, it may lead to significant physical and psychological effects on young girls. Surgery is regarded as the preferred treatment and may involve either breast reduction or bilateral mastectomy. This approach is warranted due to the size of the breasts and their associated physical and psychological impacts, as experienced by our patient.

Conclusions

This report aims to share knowledge about this rare case and may also pave the way for further research to understand the underlying mechanisms better and standardize the treatment of juvenile breast hypertrophy.

Highlights

• •Juvenile breast hypertrophy is a rare and benign disease.
• •Juvenile breast hypertrophy is characterized by atypical, alarming and continuous breast growth during puberty.
• •Breast reduction surgery is the foundation of the treatment.
• •Definitive treatment is the most difficult aspect of management.

Abbreviations

JBH

Juvenile Breast hypertrophy

1. Introduction

Juvenile breast hypertrophy (JBH), also known as Juvenile gigantomastia, is a pathological enlargement of both breasts in adolescent girls. It is a rare mastopathy, with only 57 cases reported worldwide [1].

Its etiology is undetermined, although the factor most often suggested is hormonal dysregulation, caused by a reduction in catabolism or hypersensitivity of the target organ to hormonal stimuli.

Surgery is the preferred treatment, and tamoxifen is recommended after surgery to prevent recurrence [2].

We present the case of a 12-year-old Moroccan girl with virginal breast enlargement managed with great success. This case was presented in accordance with the updated consensus Surgical Case Report (SCARE) guidelines [3].

2. Case report

The patient was a 12-year-old schoolgirl with no significant medical history. She presented with a progressive, bilateral, symmetrical, and painless increase in the volume of both breasts, without nipple discharge, which had been progressing for ten months, coinciding with the onset of menarche (Fig. 1).

Fig. 1.

Clinical image showing bilateral gigantomastia.

Biologically, all hormonal tests were normal (FSH, LH, prolactin, BHCG, AFP, oestradiol, TSH, T3, T4).

Breast ultrasound showed a mottled appearance of the gland, with multiple well-defined oval masses, hyperechogenic and vascularised on color Doppler. Breast MRI revealed gigantomastia with multiple diffuse breast masses, suggesting juvenile adenofibromatosis.

The girl underwent bilateral breast reduction under general anesthetic, performed in two stages.

The first phase concerned the right breast, where the technique T inversse a pedicule supero medial was used (Fig. 2, Fig. 3). The course was marked by a relapse after two months post-operatively. It should be noted that the patient had not received tamoxifen treatment during this period.

Fig. 2.

Preoperative drawing using the inverted t technique with upper pedicle.

Fig. 3.

Inverted T technique with superior pedicle [16].

The second phase involved reoperating on the right breast using the Thorek technique (Fig. 4), while also performing the same procedure on the left breast, which included the replacement of the areola (see diagrams 2 and 3). The total weight of the resected breast tissue (8 kg) accounts for 16 % of the patient's body weight (50 kg).

Fig. 4.

Thorek technique [16]. a. Removal of the areola in thin skin. b. Inverted T resection, taking the site of the areola-nipple plate; removing the epidermis from an area the same size as the areola to reposition it. c.Areola graft after despidermization, suture with pressure bandage.

The patient was subsequently prescribed tamoxifen after a multidisciplinary consultation to prevent recurrence, which led to a positive outcome. Pathological examination of the surgical specimens revealed a morphological appearance of juvenile adenofibromatosis, with an immunohistochemical study showing positive progesterone and estrogen receptors (Fig. 5).

Fig. 5.

Histological appearance: There was an increase in interlobular stroma, which is composed of abundant collagen and fat. The duct was lined by normal epithelium with no atypia, hyperplasia, or evidence of malignancy. (a): 10× increase in magnification (b): 25× increase in magnification.

The evolution was favorable, without relapse or recurrence, over a follow-up period of 24 months (Fig. 6).

Fig. 6.

Image of the surgical result 1 year after the operation.

3. Discussion

JBH also known as virginal hypertrophy, is characterized by an excessive volume increase of the breasts, exceeding 1500 cm³. This disorder generally develops at the onset of puberty and has a propensity to cause mechanical complications, particularly of the spine, in growing patients [4]. The age of onset is typically around 13 to 14 years, and the pathogenic hypothesis most widely accepted in the literature suggests a hormonal imbalance. Hormones such as estrogen, progesterone, and prolactin have a significant influence on breast development, and an imbalance in their levels is thought to promote excessive breast growth. Genetic factors may also influence the onset of virginal breast hypertrophy, with instances reported in particular families. However, in this particular case, no familial history was noted.

Studies have shown that mutation and deletion of the PTEN gene are associated with early lobuloalveolar development, excessive ductal branching, delayed involution, decreased apoptosis, and hyperproliferation of the mammary epithelium. A 2 On the other hand, obesity does not appear to be a determining factor, as a normal-weight adolescent can also present with gigantomastia. In our case, the adolescent was not overweight [5,6].

The main symptom of this condition is a rapid increase in the size of one or both breasts, often observed over weeks to months. This excessive growth can cause physical discomfort, pain, and limitations in movement, as well as disabling kyphosis. JBH is usually accompanied by significant ptosis, which is directly linked to overweight breasts, leading to scapular pain and postural disorders. In addition, those affected may suffer emotional distress, body image difficulties, and damaged self-esteem [7].

Virginal hypertrophy can occur unilaterally or bilaterally, the bilateral form being the most common in adolescent girls, according to Grolleau [8]. According to these authors, it accounts for 63 % of cases of morphological breast anomalies in adolescents, while the unilateral form accounts for only 6 % of cases. When unilateral, this can complicate the differential diagnosis, particularly given possible tumoral breast asymmetry. When it occurs bilaterally, it can be either symmetrical or asymmetrical [2]. In the case we're describing, it's a bilateral symmetrical gigantomastia.

The role of imaging in diagnosis is limited. Because of the density of the breast, ultrasound is the recommended first-line examination. In the case of suspicious lesions, MRI may be considered, while mammography is not recommended [9].

Biologically, assessment of the endocrine profile - including oestradiol, progesterone, LH, FSH, and prolactin - is common but not always necessary, as it usually indicates no abnormality. In our patient's case, the endocrinological profile was normal, and breast ultrasound and MRI ruled out other underlying breast pathologies [9].

In most cases, the clinical diagnosis of JHB is so distinctive that consideration of other breast pathologies is largely theoretical. Differential diagnoses of JHB include giant fibroadenomas, phyllodes tumors, and malignancies such as lymphomas and sarcomas [10].

Four treatment options are available: surgical intervention, pre-operative medical treatment, post-operative medical treatment, and isolated medical treatment [11].

Surgery is considered the treatment of choice and may consist of breast reduction or bilateral mastectomy. It is indicated because of the size of the breasts and their physical and psychological repercussions, which was the case for our patient.

Surgical options include mastectomy with implant reconstruction and breast reduction (reduction mammoplasty), which can be performed using either a pedicle technique or a free nipple graft.

Hoppe et al. observed a significant relationship (p < 0.01) with an odds ratio of 7.0 regarding the risk of recurrence after reduction mammoplasty compared to mastectomy. This finding suggests that mastectomy is the most definitive treatment for breast fullness. However, the scale of the operation and the possible psychological consequences limit its use in adolescent girls [12].

A common and well-accepted treatment approach is to perform breast reduction surgery first, followed, in the event of recurrence, by mastectomy with implant reconstruction [13].

Plastic correction can be divided into three main categories of reduction, according to Loury et al.: amputation with areolar grafting, described by Thorek, the superior dermo-glandular pedicle, and the inferior dermo-glandular pedicle [14]. The last two techniques are distinguished by their ability to preserve the areolar skin and allow breastfeeding.

The most commonly used technique is the inverted ‘T’, which is well adapted to the usual size of the breasts. Most breast reduction methods can be performed with a superior, inferior, or lateral flap, with or without preservation of the areolar-mammary plate [15].

Medical treatments, mainly based on hormone modulators, have been explored for the management of JHB. These include tamoxifen, dydrogesterone, medroxyprogesterone, bromocriptine, and danazol. Tamoxifen, a selective estrogen receptor modulator (SERM), is the most commonly used treatment in recent studies. Tamoxifen doses vary from 10 to 40 mg per day, with different administration protocols. However, the data on its efficacy are uneven from case to case, and the safety of its long-term use in adolescent girls has not yet been established [12].

Following mammoplasty, patients often experience a notable rate of recurrences within the subsequent months and even years later. Pregnancy is regarded as one of the possible contributing factors, primarily due to the associated hyperestrogenism [12].

Based on our experience, surgical intervention remains vital. The administration of tamoxifen is key to enhancing surgical outcomes and reducing the likelihood of recurrence.

4. Conclusion

Juvenile breast hypertrophy is a significant morphological deformation of the breasts. Surgical correction of these significant hypertrophies considerably improves the quality of life of the adolescent concerned.

Our case report documents a rare case of j juvenile breast hypertrophy is, with psychosocial repercussions, which was treated by reduction surgery, leading to a satisfactory aesthetic result and an adequate quality of life.

Guarantor of submission

The corresponding author is the guarantor of submission.

Consent

Written informed consent has been obtained from the patient's parents and the patient herself for publication of this report and accompanying images. A copy of the written consent is available for review by the editor of this journal.

Ethical approval

It is not necessary to obtain specific ethical approval from the Mohamed V Military Hospital for this situation. The case report does not contain any personal information.

Funding

None.

Author contribution

Saad Benali, Zineb Imane, Essaoudi Mohamed Amine and Abdelhamid Benlghazi were responsible for the patient's diagnosis and clinical management. Abdelhamid Benlghazi and Saad Benali wrote the manuscript. Moulay Mehdi Elhassani and Kouach Jaouad contributed to the analysis, supervision, writing, reviewing, and editing of the manuscript for intellectual content. All authors have read and approved the final manuscript.

Guarantor

BENLGHAZI ABDELHAMID.

Research registration number

The name of the registry: researchregistry.com/.

The hyperlink to the registration: https://www.researchregistry.com/browse-the-registry#home/.

The unique identifying number of the study: researchregistry.

Conflict of interest statement

The authors declare no conflict of interest.

Data availability

None.